Publications

Polygenic risk scores for prediction of immune checkpoint inhibitor thyroid toxicity in diverse populations

Fritsche, L. G., Higgins, L. M., Schipper, M., Strohbehn, G., McMahon, B. H., Crivelli, S., Dai, X., Yoo, S., Veterans Affairs Million Veteran Program, Vanderwerff, B., Bertucci-Richter, E., Elliott, D., Green, M. D., Bryant, A. K.

Clinical Cancer Research

Why it matters: Treatment-related outcomes include adverse effects as well as benefits. In 4,289 veterans treated with checkpoint inhibitors, an updated hypothyroidism polygenic score predicted thyroiditis in both the non-Hispanic White and Black patient groups, but not in chemotherapy controls. The older score, which was derived from European-ancestry data, did not predict thyroiditis in the Black patient group. This shows why scores need to be validated in each population and treatment setting.

• Ancestry, diversity & disparities
• Cancer & immunotherapy
• Clinical translation & treatment response
• COVID-19, infection & immunity
• Polygenic risk & prediction

OCT-based AI-assisted phenotyping of intermediate AMD in the prospective PINNACLE trial: PINNACLE Study Report 9

Riedl, S., Mai, J., Enzendorfer, M. L., Nugawela, M. D., Fritsche, L., Prevost, T., Rueckert, D., Menten, M., Scholl, H., Sivaprasad, S., Lotery, A., Bogunovic, H., Sacu, S., Schmidt-Erfurth, U.

Br J Ophthalmol

• AI & data science
• EHR & computational phenotyping
• Eye disease & retinal imaging

Precision approaches for scalable digital and clinic-based interventions in mental health

Bohnert A. S. B., Fritsche L., Sen S.

Biol Psychiatry Cogn Neurosci Neuroimaging

Why it matters: Digital tools can widen access, but low engagement and modest average effects mean that scale alone is not enough. Written by the three COMPASS co-leads, the perspective asks whether mobile, genetic, and clinical data can help tailor both conventional and digital treatment.

• Clinical translation & treatment response
• AI & data science
• EHR & computational phenotyping
• Neurologic & mental health

Lesion-Centered Functional Trajectories Reveal Early Retinal Sensitivity Decline in Intermediate AMD: PINNACLE Study Report 15

Futterknecht S., Riedl S., Mai J., Arabi S., Hall U., Bogunovic H., Fritsche L. G., Rueckert D., Menten M. J., Sacu S., Schmidt-Erfurth U., Sivaprasad S., Lotery A., Pfau M.

American Journal of Ophthalmology

• Eye disease & retinal imaging

Multi-ancestry genome-wide association analyses provide insights into the genetic basis of Hashimoto's thyroiditis

Bujnis M. N., Sterenborg R. B. T. M., Li Y., Åsvold B. O., Brčić L., Boraska Perica V., Babbar A., Denny J. C., Fritsche L. G., Kanai M., Konrade I., Leese G., Marouli E., Metspalu A., Moksnes M. R., Mukherjee B., Okada Y., Palmer C. N. A., Papadopoulou A., Peculis R., Rovite V., Sauer P. J., Soto-Pedre E., Srinivasan S., Steinbrenner I., Teder-Laving M., Wang B., Weihs A., Zeng C., Zhou J., Biobank Japan Project, Song X., Jorde L. B., Medici M., Teumer A.

Nature Genetics

• Cardiovascular, metabolic & renal health
• COVID-19, infection & immunity
• Genetic discovery & methods
• Ancestry, diversity & disparities

Incorporating external risk information with the Cox model under population heterogeneity: applications to trans-ancestry polygenic hazard scores

Wang D., Ye W., Zhu J., Xu G., Tang W., Zawistowski M., Fritsche L. G., He K.

Journal of the Royal Statistical Society Series A: Statistics in Society

• Polygenic risk & prediction
• Genetic discovery & methods
• Cancer & immunotherapy
• Ancestry, diversity & disparities

Genomic analyses implicate hormonal and metabolic dysregulation in polycystic ovary syndrome

Moolhuijsen L. M. E., Zhu J., Mullin B. H., Pujol-Gualdo N., Actkins K. V., Mack J. A., Rao H., Trivedi B., Kentistou K. A., Zhao Y., Westergaard D., Tyrmi J. S., Thorleifsson G., Zhang Y., Wittemans L., DeVries A., Brewer K., Sisk R., Danning R., Preuss M. H., Jones M. R., Ruth K. S., Andersen M., Azziz R., Banasik K., Boehnke M., Broer L., Brunak S., Chan Y. M., Chasman D. I., Daly M., Ehrmann D. A., Fauser B. C., Fritsche L. G., Hayes M. G., He C., Huang H., Kowalska I., Kraft P., Legro R. S., Lin N., Loos R. J., Louwers Y. V., Magi R., McCarthy M. I., Morin-Papunen L., Morrison J. V., Morton C., Nadkarni G. N., Neale B. M., Nielsen H. S., Nyegaard M., Ostrowski S. R., Pedersen O. B. V., Sørensen E., Mikkelsen C., Erikstrup C., Kaspersen K. A., Bruun M. T., Aagaard B., Ullum H., Obermayer-Pietsch B., Palotie A., Reeve M. P., Salumets A., Saxena R., Spector T. D., Stuckey B. G. A., Thorsteinsdottir U., Uitterlinden A. G., Urbanek M., Zöllner S., Genes and Health Research Team, DBDS Genomic Consortium, 23andMe Research Team, van Heel D. A., Hirschhorn J. N., Stefansson K., Perry J. R. B., Styrkarsdottir U., Wilson S. G., Piltonen T., Laisk T., Jarvelin M. R., Burns K., Justice A. E., Laivuori H., Ong K. K., Goodarzi M. O., Davis L. K., Dunaif A., Lindgren C. M., Laven J. S. E., Franks S., Visser J. A., Welt C. K., Karaderi T., Day F. R.

Nature Genetics

• Cardiovascular, metabolic & renal health
• Polygenic risk & prediction
• Genetic discovery & methods

A doubly robust framework for addressing outcome-dependent selection bias in multi-cohort EHR studies

Kundu R., Shi X., Kleinsasser M., Fritsche L. G., Salvatore M., Mukherjee B.

Biostatistics

• EHR & computational phenotyping
• Biobanks & population cohorts
• Genetic discovery & methods
• Cancer & immunotherapy

Assessing the Clinical Utility of Published Prostate Cancer Polygenic Risk Scores in a Large Biobank Data Set

Vince R. A. Jr., Sun H., Singhal U., Schumacher F. R., Trapl E., Rose J., Cullen J., Zaorsky N., Shoag J., Hartman H., Jia A. Y., Spratt D. E., Fritsche L. G., Morgan T. M.

European Urology Oncology

Why it matters: Researchers tested 16 published prostate cancer scores in the Michigan Genomics Initiative (MGI) and used detailed biopsy data to evaluate their clinical utility. Even the best-performing score separated cases from controls only modestly, and none distinguished aggressive from indolent disease. Predicting a diagnosis is not the same as identifying the cancers that most need treatment.

• Biobanks & population cohorts
• Cancer & immunotherapy
• Clinical translation & treatment response
• Polygenic risk & prediction

Functional Outcomes Across High-Risk OCT-Based Phenotypes in Intermediate Age-Related Macular Degeneration-PINNACLE Study Report 11

Enzendorfer M. L., Mai J., Riedl S., Bogunovic H., Menten M. J., Rueckert D., Fritsche L. G., Prevost A. T., Sivaprasad S., Pfau M., Scholl H. P. N., Lotery A. J., Sacu S., Schmidt-Erfurth U.

Investigative Ophthalmology & Visual Science

• Eye disease & retinal imaging

Asymmetric integration of various cancer datasets for identifying risk-associated variants and genes

Wang R., Tran L., Brennan B., Fritsche L. G., He K., Brenner J. C., Jiang H.

Bioinform Adv

• Biobanks & population cohorts
• Cancer & immunotherapy
• Genetic discovery & methods

Using adaptive optics to assess hyporeflective clump speed and size in age-related macular degeneration in the PINNACLE Study. (PINNACLE Study Report 6)

Holmes C., Kazantzis D., Raza S. A., Wijesingha N., Taylor T. R., Hagag A., Riedl S., Mai J., Rueckert D., Bogunovic H., Scholl H., Schmidt-Erfurth U., Fritsche L., Lotery A., Sivaprasad S.

Eye (Lond)

• Eye disease & retinal imaging

Polygenic prediction of body mass index and obesity through the life course and across ancestries

Smit R. A. J., Wade K. H., Hui Q., Arias J. D., Yin X., Christiansen M. R., Yengo L., Preuss M. H., Nakabuye M., Rocheleau G., Graham S. E., Buchanan V. L., Chittoor G., Graff M., Guindo-Martinez M., Lu Y., Marouli E., Sakaue S., Spracklen C. N., Vedantam S., Wilson E. P., Chen S. H., Ferreira T., Ji Y., Karaderi T., Lull K., Machado M., Malden D. E., Medina-Gomez C., Moore A., Rueger S., Akiyama M., Allison M. A., Alvarez M., Andersen M. K., Appadurai V., Arbeeva L., Bartell E., Bhaskar S., Bielak L. F., Bis J. C., Bollepalli S., Bork-Jensen J., Bradfield J. P., Bradford Y., Brandl C., Braund P. S., Brody J. A., Broeckel U., Burgdorf K. S., Cade B. E., Cai Q., Camarda S., Campbell A., Canadas-Garre M., Chai J. F., Chesi A., Choi S. H., Christofidou P., Couture C., Cuellar-Partida G., Danning R., Degenhardt F., Delgado G. E., Delitala A., Demirkan A., Deng X., Dietl A., Dimitriou M., Dimitrov L., Dorajoo R., Eichelmann F., Eliasen A. U., Engmann J. E., Erdos M. R., Fairhurst-Hunter Z., Farmaki A. E., Faul J. D., Fernandez-Lopez J. C., Forer L., Frank M., Freitag-Wolf S., Fritsche L. G., Fuchsberger C., Galesloot T. E., Gao Y., Geller F., Giannakopoulou O., Giulianini F., Gjesing A. P., Goel A., Gordon S. D., Gorski M., Grove J., Guo X., Gustafsson S., Haessler J., Hansen T. F., Havulinna A. S., Haworth S. J., Heard-Costa N., Hemerich D., Highland H. M., Hindy G., Ho Y. L., Hofer E., Holliday E., Horn K., Hornsby W. E., Hottenga J. J., Huang H., Huang J., Huerta-Chagoya A., Huo S., Hwang M. Y., Hwu C. M., Iha H., Ikeda D. D., Isono M., Jackson A. U., Jansen I. E., Jiang Y., Johansson I., Jonsson A., Jorgensen T., Kalafati I. P., Kanai M., Kanoni S., Karhus L. L., Kasturiratne A., Katsuya T., Kawaguchi T., Kember R. L., Kentistou K. A., Kim D., Kim H. N., Kim Y. J., Kleber M. E., Knol M. J., Kurbasic A., Lauzon M., Le P., Lea R., Lee J. Y., Lee W. J., Leonard H. L., Li H., Li S. A., Li X., Li X., Liang J., Lin H., Lin K., Liu J., Liu X., Lo K. S., Long J., Lores-Motta L., Luan J., Lyssenko V., Lyytikainen L. P., Mahajan A., Malik M. Z., Mamakou V., Mangino M., Manichaikul A., Marten J., Mattheisen M., McDaid A. F., Mei Q., Meiselbach H., Melendez T. L., Milaneschi Y., Miller J. E., Millwood I. Y., Mishra P. P., Mitchell R. E., Mollehave L. T., Mononen N., Mucha S., Munz M., Mykkanen J., Nakatochi M., Nardone G. G., Nelson C. P., Nethander M., Nho C. W., Nielsen A. A., Nolte I. M., Nongmaithem S. S., Noordam R., Ntalla I., Nutile T., Pandit A., Pauper M., Petersen E. R. B., Petersen L. V., Piluso F., Polasek O., Poveda A., Pyarajan S., Raffield L. M., Rakugi H., Ramirez J., Rasheed A., Raven D., Rayner N. W., Riveros C., Rohde R., Ruggiero D., Ruotsalainen S. E., Ryan K. A., Sabater-Lleal M., Santin A., Saxena R., Scholz M., Shen B., Shi J., Shin J. H., Sidore C., Sidorenko J., Sim X., Slieker R. C., Smith A. V., Smith J. A., Smyth L. J., Southam L., Steinthorsdottir V., Sun L., Takeuchi F., Taylor K. D., Tayo B. O., Tcheandjieu C., Terzikhan N., Tesolin P., Teumer A., Theusch E., Thompson D. J., Thorleifsson G., Timmers Prhj, Trompet S., Turman C., Vaccargiu S., van der Laan S. W., van der Most P. J., van Klinken J. B., van Setten J., Verma S. S., Verweij N., Veturi Y., Wang C. A., Wang C., Wang J. S., Wang L., Wang Y. X., Wang Z., Warren H. R., Bin Wei W., Wen W., Wheeler W. A., Wickremasinghe A. R., Wielscher M., Winsvold B. S., Wong A., Wuttke M., Xia R., Yamamoto K., Yang J., Yao J., Young H., Yousri N. A., Yu L., Zeng L., Zhang W., Zhang X., Zhao J. H., Zhao W., Zhou W., Zimmermann M. E., Zoledziewska M., t Hart L. M., Adair L. S., Adams H. H. H., Aguilar-Salinas C. A., Al-Mulla F., Arnett D. K., Asselbergs F. W., Asvold B. O., Attia J., Banas B., Bandinelli S., Beilin L. J., Bennett D. A., Bergler T., Bharadwaj D., Biino G., Boerwinkle E., Boger C. A., Borja J. B., Bouchard C., Bowden D. W., Brandslund I., Brumpton B., Buring J. E., Caulfield M. J., Chambers J. C., Chandak G. R., Chanock S. J., Chaturvedi N., Ida Chen Y. D., Chen Z., Cheng C. Y., Cho Y. S., Christensen K., Christophersen I. E., Ciullo M., Cole J. W., Collins F. S., Concas M. P., Cooper R. S., Cruz M., Cucca F., Cutler M. J., Damrauer S. M., Dantoft T. M., de Borst G. J., de Geus E. J. C., de Groot Lcpgm, De Jager P. L., de Kleijn D. P. V., de Silva H. J., Dedoussis G. V., den Hollander A. I., Du S., Easton D. F., Eckardt K. U., Elders P. J. M., Eliassen A. H., Ellinor P. T., Elmstahl S., Erdmann J., Evans M. K., Fatkin D., Feenstra B., Feitosa M. F., Ferrucci L., Florez J. C., Ford I., Fornage M., Franke A., Franks P. W., Freedman B. I., Gieger C., Girotto G., Golightly Y. M., Gonzalez-Villalpando C., Gordon-Larsen P., Grallert H., Grant S. F. A., Grarup N., Griffiths L., Gudnason V., Haiman C., Hakonarson H., Hansen T., Hartman C. A., Hattersley A. T., Hayward C., Heid I. M., Heng C. K., Hengstenberg C., Herzig K. H., Hewitt A. W., Hishigaki H., Hougaard D. M., Hoyng C. B., Huang P. L., Huang W., Huang W. Y., Huffman J. E., Hunt S. C., Hutri N., Hveem K., Hypponen E., Iacono W. G., Ichihara S., Ikram M. A., Isasi C. R., Jarvelin M. R., Jin Z. B., Jockel K. H., Jonas J. B., Joshi P. K., Jousilahti P., Jukema J. W., Kahonen M., Kamatani Y., Kang K. D., Kaprio J., Kardia S. L. R., Karpe F., Kato N., Kavousi M., Kee F., Kessler T., Khera A. V., Khor C. C., Kiemeney Lalm, Kim B. J., Kim E. K., Kim H. L., Kirchhof P., Kivimaki M., Koh W. P., Koistinen H. A., Kokkinos A., Kooner J. S., Kooperberg C., Kovacs P., Kraaijeveld A., Kraft P., Krauss R. M., Kumari M., Kutalik Z., Laakso M., Lange L. A., Langenberg C., Launer L. J., Lee H., Lee N. R., Lehtimaki T., Lemaitre R. N., Li H., Li L., Lieb W., Lin X., Lind L., Linneberg A., Liu C. T., Liu J., Loeffler M., London B., Lu F., Lubitz S. A., Mackey D. A., Magnusson P. K. E., Manson J. E., Marcus G. M., Marques Vidal P., Martin N. G., Marz W., Matsuda F., McCarthy M. I., McGarrah R. W., McGue M., McKnight A. J., Medland S. E., Mellstrom D., Metspalu A., Mitchell B. D., Mitchell P., Mook-Kanamori D. O., Mori T. A., Morris A. D., Mucci L. A., Munroe P. B., Nalls M. A., Nazarian S., Nelson A. E., Neville M. J., Newton-Cheh C., Nielsen C. S., Niinikoski H., Nikus K., Nothen M. M., Ogunniyi A., Ohlsson C., Oldehinkel A. J., Orozco L., Pahkala K., Pajukanta P., Palmer C. N. A., Parra E. J., Pattaro C., Pedersen O., Pennell C. E., Penninx Bwjh, Perusse L., Peters A., Peyser P. A., Porteous D. J., Posthuma D., Power C., Pramstaller P. P., Province M. A., Psaty B. M., Qi Q., Qu J., Rader D. J., Raitakari O. T., Rallidis L. S., Rao D. C., Redline S., Reilly D. F., Reiner A. P., Rhee S. Y., Ridker P. M., Rienstra M., Ripatti S., Ritchie M. D., Rivadeneira F., Roden D. M., Rosendaal F. R., Rotter J. I., Rudan I., Rutters F., Ryu S., Sabanayagam C., Salako B., Saleheen D., Salomaa V., Samani N. J., Sanghera D. K., Sattar N., Schmidt B., Schmidt H., Schmidt R., Schulze M. B., Schunkert H., Scott L. J., Scott R. J., Sever P., Sheu W. H. H., Shoemaker M. B., Shu X. O., Simonsick E. M., Sims M., Singleton A. B., Sinner M. F., Smith J. G., Snieder H., Spector T. D., Spedicati B., Stampfer M. J., Stark K. J., Strachan D. P., Tabara Y., Tai E. S., Tang H., Tardif J. C., Thanaraj T. A., Tonjes A., Tuomi T., Tuomilehto J., Tusie-Luna M. T., van Dam R. M., van der Harst P., Van der Velde N., van Duijn C. M., van Schoor N. M., Vitart V., Vohl M. C., Volker U., Vollenweider P., Volzke H., Vrieze S., Wacher-Rodarte N. H., Walker M., Wander G. S., Wareham N. J., Watanabe R. M., Watkins H., Weir D. R., Werge T. M., Widen E., Willemsen G., Willett W. C., Wilson J. F., Wilson P. W. F., Wong T. Y., Woo J. T., Wright A. F., Xu H., Yajnik C. S., Yang J., Yokota M., Yuan J. M., Zeggini E., Zemel B. S., Zheng W., Zhu X., Zillikens M. C., Zonderman A. B., Zwart J. A., andMe Research Team, DiscovEhr, eMerge, Gpc U. G. R., Practical Consortium, Understanding Society Scientific Group, V. A. Million Veteran Program, Abecasis G. R., Assimes T. L., Auton A., Boehnke M., Chasman D. I., Esko T., Stefansson K., Lettre G., Lindgren C. M., Ng M. C. Y., O'Donnell C. J., Thorsteinsdottir U., Visscher P. M., Walters R. G., Winkler T. W., Wood A. R., Deloukas P., Frayling T. M., Justice A. E., Kilpelainen T. O., Locke A. E., Mohlke K. L., North K. E., Okada Y., Willer C. J., Young K. L., Fatumo S., McCaffery J. M., Timpson N. J., Hirschhorn J. N., Sun Y. V., Berndt S. I., Loos R. J. F.

Nat Med

• Ancestry, diversity & disparities
• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• Polygenic risk & prediction

Expanding biobank pharmacogenomics through machine learning calls of structural variation

Vanderwerff B., Pasternak A. L., Fritsche L. G., Bertucci-Richter E., Patil S., Boehnke M., Zhou X., Zollner S., Hertz D. L., Zawistowski M.

Genetics

Why it matters: Common genotyping arrays do not directly capture complex pharmacogenetic variants such as the CYP2D6*5 deletion. The method infers the deletion from array intensities, allowing it to be studied in existing biobank data for drug-response research.

• Biobanks & population cohorts
• Clinical translation & treatment response
• AI & data science

Targeted Microperimetry Grids for Focal Lesions in Intermediate AMD: PINNACLE Study Report 7

Futterknecht S., Anders P., Mai J., Riedl S., Hall U., Gabrani C., Pfau K., Menten M. J., Rueckert D., Prevost A. T., Bogunovic H., Fritsche L. G., Schmidt-Erfurth U., Sivaprasad S., Lotery A., Scholl H. P. N., Pfau M.

Investigative Ophthalmology & Visual Science

• Eye disease & retinal imaging

Features of intermediate and late dry age-related macular degeneration on adaptive optics ophthalmoscopy: Pinnacle Study Report 8

Hagag A. M., Holmes C., Raza A., Riedl S., Anders P., Kaye R., Prevost T., Fritsche L. G., Rueckert D., Bogunovic H., Scholl H. P. N., Schmidt-Erfurth U., Lotery A. J., Sivaprasad S.

Eye (Lond)

• Eye disease & retinal imaging

Specialized curricula for training vision language models in retinal image analysis

Holland R., Taylor T. R. P., Holmes C., Riedl S., Mai J., Patsiamanidi M., Mitsopoulou D., Hager P., Muller P., Paetzold J. C., Scholl H. P. N., Bogunovic H., Schmidt-Erfurth U., Rueckert D., Sivaprasad S., Lotery A. J., Menten M. J., Pinnacle consortium

Consortium credit: Lars Fritsche, PINNACLE consortium. Authorship record

NPJ Digit Med

• AI & data science
• Eye disease & retinal imaging

A Linear Analysis Mixed Model Phenotyper (LAMP) for Bipolar Disorder: Evaluating the Impact of Medication, Substance Use Disorders, and Comorbidities on Mood Trajectories

Liu Q., Srivastava P., Rozhkov I., Farnum G. A., Holmes M. J., Fritsche L. G., Belmonte D., Ade A., Sun J., Yocum A., McLnnis M., Baladandayuthapani V., Athey B. D.

medRxiv

• Clinical translation & treatment response
• AI & data science
• EHR & computational phenotyping
• Neurologic & mental health
• Genetic discovery & methods

Improving prediction models of amyotrophic lateral sclerosis (ALS) using polygenic, pre-existing conditions, and survey-based risk scores in the UK Biobank

Jin W., Boss J., Bakulski K. M., Goutman S. A., Feldman E. L., Fritsche L. G., Mukherjee B.

Journal of Neurology

Why it matters: Genetics, diagnoses, and survey measures did not contribute equally. In UK Biobank, polygenic scores for amyotrophic lateral sclerosis (ALS) offered modest discrimination. Adding diagnoses recorded before onset improved discrimination, while adding the exposure score did not. In this analysis, combining more types of data did not necessarily improve prediction.

• Biobanks & population cohorts
• AI & data science
• Neurologic & mental health
• Polygenic risk & prediction

Effectiveness and safety of immune checkpoint inhibitors in Black patients versus White patients in a US national health system: a retrospective cohort study

Miller S., Jiang R., Schipper M., Fritsche L. G., Strohbehn G., Wallace B., Brinzevich D., Falvello V., McMahon B. H., Zamora-Resendiz R., Ramnath N., Dai X., Sankar K., Edwards D. M., Allen S. G., Yoo S., Crivelli S., Green M. D., Bryant A. K.

Lancet Oncol

• Ancestry, diversity & disparities
• Biobanks & population cohorts
• Cancer & immunotherapy
• Clinical translation & treatment response
• EHR & computational phenotyping
• COVID-19, infection & immunity

Pan-Cancer Survival Impact of Immune Checkpoint Inhibitors in a National Healthcare System

Miller S. R., Schipper M., Fritsche L. G., Jiang R., Strohbehn G., Otles E., McMahon B. H., Crivelli S., Zamora-Resendiz R., Ramnath N., Yoo S., Dai X., Sankar K., Edwards D. M., Allen S. G., Green M. D., Bryant A. K.

Cancer Med

• Cancer & immunotherapy
• Clinical translation & treatment response
• EHR & computational phenotyping
• COVID-19, infection & immunity

Metadata-enhanced contrastive learning from retinal optical coherence tomography images

Holland R., Leingang O., Bogunovic H., Riedl S., Fritsche L., Prevost T., Scholl H. P. N., Schmidt-Erfurth U., Sivaprasad S., Lotery A. J., Rueckert D., Menten M. J., Pinnacle consortium

Med Image Anal

• AI & data science
• Eye disease & retinal imaging

Artificial intelligence to unlock real-world evidence in clinical oncology: A primer on recent advances

Bryant A. K., Zamora-Resendiz R., Dai X., Morrow D., Lin Y., Jungles K. M., Rae J. M., Tate A., Pearson A. N., Jiang R., Fritsche L., Lawrence T. S., Zou W., Schipper M., Ramnath N., Yoo S., Crivelli S., Green M. D.

Cancer Med

• Cancer & immunotherapy
• AI & data science

To weight or not to weight? The effect of selection bias in 3 large electronic health record-linked biobanks and recommendations for practice

Salvatore M., Kundu R., Shi X., Friese C. R., Lee S., Fritsche L. G., Mondul A. M., Hanauer D., Pearce C. L., Mukherjee B.

J Am Med Inform Assoc

Why it matters: Weighting is not an automatic fix for a nonrepresentative biobank. Across three cohorts, it changed prevalence and targeted effect estimates more than broad discovery analyses. The practical lesson is to define the target population and estimand first, then decide whether weighting improves the analysis.

• Biobanks & population cohorts
• EHR & computational phenotyping

A genome-wide association study provides insights into the genetic etiology of 57 essential and non-essential trace elements in humans

Moksnes M. R., Hansen A. F., Wolford B. N., Thomas L. F., Rasheed H., Simic A., Bhatta L., Brantsaeter A. L., Surakka I., Zhou W., Magnus P., Njolstad P. R., Andreassen O. A., Syversen T., Zheng J., Fritsche L. G., Evans D. M., Warrington N. M., Nost T. H., Asvold B. O., Flaten T. P., Willer C. J., Hveem K., Brumpton B. M.

Commun Biol

• Genetic discovery & methods

Incorporating functional annotation with bilevel continuous shrinkage for polygenic risk prediction

Zhuang Y., Kim N. Y., Fritsche L. G., Mukherjee B., Lee S.

BMC Bioinformatics

• Polygenic risk & prediction
• Genetic discovery & methods

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Kwong A., Zawistowski M., Fritsche L. G., Zhan X., Bragg-Gresham J., Branham K. E., Advani J., Othman M., Ratnapriya R., Teslovich T. M., Stambolian D., Chew E. Y., Abecasis G. R., Swaroop A.

Human Molecular Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

Genetic Liability to Posttraumatic Stress Disorder Symptoms and Its Association With Cardiometabolic and Respiratory Outcomes

Pathak G. A., Singh K., Choi K. W., Fang Y., Kouakou M. R., Lee Y. H., Zhou X., Fritsche L. G., Wendt F. R., Davis L. K., Polimanti R.

JAMA Psychiatry

• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• EHR & computational phenotyping
• Neurologic & mental health
• Polygenic risk & prediction
• Genetic discovery & methods

Systematic review of prognostic factors associated with progression to late age-related macular degeneration: Pinnacle study report 2

Hagag A. M., Kaye R., Hoang V., Riedl S., Anders P., Stuart B., Traber G., Appenzeller-Herzog C., Schmidt-Erfurth U., Bogunovic H., Scholl H. P., Prevost T., Fritsche L., Rueckert D., Sivaprasad S., Lotery A. J.

Surv Ophthalmol

• Eye disease & retinal imaging

Genome-wide association analyses identify distinct genetic architectures for age-related macular degeneration across ancestries

Gorman B. R., Voloudakis G., Igo R. P. Jr., Kinzy T., Halladay C. W., Bigdeli T. B., Zeng B., Venkatesh S., Cooke Bailey J. N., Crawford D. C., Markianos K., Dong F., Schreiner P. A., Zhang W., V. A. Million Veteran Program, International A. M. D. Genomics Consortium, Hadi T., Anger M. D., Stockwell A., Melles R. B., Yin J., Choquet H., Kaye R., Patasova K., Patel P. J., Yaspan B. L., Jorgenson E., Hysi P. G., Lotery A. J., Gaziano J. M., Tsao P. S., Fliesler S. J., Sullivan J. M., Greenberg P. B., Wu W. C., Assimes T. L., Pyarajan S., Roussos P., Peachey N. S., Iyengar S. K.

Consortium credit: Lars G. Fritsche, International AMD Genomics Consortium (IAMDGC). Authorship record

Nature Genetics

• Ancestry, diversity & disparities
• Eye disease & retinal imaging
• Genetic discovery & methods

A genome-wide association meta-analysis of all-cause and vascular dementia

Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium

Consortium credit: Lars G. Fritsche, MEGAVCID consortium. Authorship record

Alzheimers Dement

• Neurologic & mental health
• Genetic discovery & methods

Uncovering associations between pre-existing conditions and COVID-19 Severity: A polygenic risk score approach across three large biobanks

Fritsche L. G., Nam K., Du J., Kundu R., Salvatore M., Shi X., Lee S., Burgess S., Mukherjee B.

PLOS Genetics

• Biobanks & population cohorts
• COVID-19, infection & immunity
• Polygenic risk & prediction

Characterizing and Predicting Post-Acute Sequelae of SARS CoV-2 Infection (PASC) in a Large Academic Medical Center in the US

Fritsche L. G., Jin W., Admon A. J., Mukherjee B.

Journal of Clinical Medicine

• EHR & computational phenotyping
• COVID-19, infection & immunity
• Polygenic risk & prediction

Design and analysis heterogeneity in observational studies of COVID-19 booster effectiveness: A review and case study

Meah S., Shi X., Fritsche L. G., Salvatore M., Wagner A., Martin E. T., Mukherjee B.

Sci Adv

• COVID-19, infection & immunity

Using Multi-Modal Electronic Health Record Data for the Development and Validation of Risk Prediction Models for Long COVID Using the Super Learner Algorithm

Jin W., Hao W., Shi X., Fritsche L. G., Salvatore M., Admon A. J., Friese C. R., Mukherjee B.

Journal of Clinical Medicine

• AI & data science
• EHR & computational phenotyping
• COVID-19, infection & immunity
• Polygenic risk & prediction

Characterizing prostate cancer risk through multi-ancestry genome-wide discovery of 187 novel risk variants

Wang A., Shen J., Rodriguez A. A., Saunders E. J., Chen F., Janivara R., Darst B. F., Sheng X., Xu Y., Chou A. J., Benlloch S., Dadaev T., Brook M. N., Plym A., Sahimi A., Hoffman T. J., Takahashi A., Matsuda K., Momozawa Y., Fujita M., Laisk T., Figueredo J., Muir K., Ito S., Liu X., Biobank Japan Project, Uchio Y., Kubo M., Kamatani Y., Lophatananon A., Wan P., Andrews C., Lori A., Choudhury P. P., Schleutker J., Tammela T. L. J., Sipeky C., Auvinen A., Giles G. G., Southey M. C., MacInnis R. J., Cybulski C., Wokolorczyk D., Lubinski J., Rentsch C. T., Cho K., McMahon B. H., Neal D. E., Donovan J. L., Hamdy F. C., Martin R. M., Nordestgaard B. G., Nielsen S. F., Weischer M., Bojesen S. E., Roder A., Stroomberg H. V., Batra J., Chambers S., Horvath L., Clements J. A., Tilly W., Risbridger G. P., Gronberg H., Aly M., Szulkin R., Eklund M., Nordstrom T., Pashayan N., Dunning A. M., Ghoussaini M., Travis R. C., Key T. J., Riboli E., Park J. Y., Sellers T. A., Lin H. Y., Albanes D., Weinstein S., Cook M. B., Mucci L. A., Giovannucci E., Lindstrom S., Kraft P., Hunter D. J., Penney K. L., Turman C., Tangen C. M., Goodman P. J., Thompson I. M. Jr., Hamilton R. J., Fleshner N. E., Finelli A., Parent M. E., Stanford J. L., Ostrander E. A., Koutros S., Beane Freeman L. E., Stampfer M., Wolk A., Hakansson N., Andriole G. L., Hoover R. N., Machiela M. J., Sorensen K. D., Borre M., Blot W. J., Zheng W., Yeboah E. D., Mensah J. E., Lu Y. J., Zhang H. W., Feng N., Mao X., Wu Y., Zhao S. C., Sun Z., Thibodeau S. N., McDonnell S. K., Schaid D. J., West C. M. L., Barnett G., Maier C., Schnoeller T., Luedeke M., Kibel A. S., Drake B. F., Cussenot O., Cancel-Tassin G., Menegaux F., Truong T., Koudou Y. A., John E. M., Grindedal E. M., Maehle L., Khaw K. T., Ingles S. A., Stern M. C., Vega A., Gomez-Caamano A., Fachal L., Rosenstein B. S., Kerns S. L., Ostrer H., Teixeira M. R., Paulo P., Brandao A., Watya S., Lubwama A., Bensen J. T., Butler E. N., Mohler J. L., Taylor J. A., Kogevinas M., Dierssen-Sotos T., Castano-Vinyals G., Cannon-Albright L., Teerlink C. C., Huff C. D., Pilie P., Yu Y., Bohlender R. J., Gu J., Strom S. S., Multigner L., Blanchet P., Brureau L., Kaneva R., Slavov C., Mitev V., Leach R. J., Brenner H., Chen X., Holleczek B., Schottker B., Klein E. A., Hsing A. W., Kittles R. A., Murphy A. B., Logothetis C. J., Kim J., Neuhausen S. L., Steele L., Ding Y. C., Isaacs W. B., Nemesure B., Hennis A. J. M., Carpten J., Pandha H., Michael A., De Ruyck K., De Meerleer G., Ost P., Xu J., Razack A., Lim J., Teo S. H., Newcomb L. F., Lin D. W., Fowke J. H., Neslund-Dudas C. M., Rybicki B. A., Gamulin M., Lessel D., Kulis T., Usmani N., Abraham A., Singhal S., Parliament M., Claessens F., Joniau S., Van den Broeck T., Gago-Dominguez M., Castelao J. E., Martinez M. E., Larkin S., Townsend P. A., Aukim-Hastie C., Bush W. S., Aldrich M. C., Crawford D. C., Srivastava S., Cullen J., Petrovics G., Casey G., Wang Y., Tettey Y., Lachance J., Tang W., Biritwum R. B., Adjei A. A., Tay E., Truelove A., Niwa S., Yamoah K., Govindasami K., Chokkalingam A. P., Keaton J. M., Hellwege J. N., Clark P. E., Jalloh M., Gueye S. M., Niang L., Ogunbiyi O., Shittu O., Amodu O., Adebiyi A. O., Aisuodionoe-Shadrach O. I., Ajibola H. O., Jamda M. A., Oluwole O. P., Nwegbu M., Adusei B., Mante S., Darkwa-Abrahams A., Diop H., Gundell S. M., Roobol M. J., Jenster G., van Schaik R. H. N., Hu J. J., Sanderson M., Kachuri L., Varma R., McKean-Cowdin R., Torres M., Preuss M. H., Loos R. J. F., Zawistowski M., Zollner S., Lu Z., Van Den Eeden S. K., Easton D. F., Ambs S., Edwards T. L., Magi R., Rebbeck T. R., Fritsche L., Chanock S. J., Berndt S. I., Wiklund F., Nakagawa H., Witte J. S., Gaziano J. M., Justice A. C., Mancuso N., Terao C., Eeles R. A., Kote-Jarai Z., Madduri R. K., Conti D. V., Haiman C. A.

Nature Genetics

• Ancestry, diversity & disparities
• Cancer & immunotherapy
• Polygenic risk & prediction
• Genetic discovery & methods

Comparison of Novel Volumetric Microperimetry Metrics in Intermediate Age-Related Macular Degeneration: PINNACLE Study Report 3

Anders P., Traber G. L., Pfau M., Riedl S., Hagag A. M., Camenzind H., Mai J., Kaye R., Bogunovic H., Fritsche L. G., Rueckert D., Schmidt-Erfurth U., Sivaprasad S., Lotery A. J., Scholl H. P. N.

Transl Vis Sci Technol

• Eye disease & retinal imaging

Epidemiologic Questionnaire (EPI-Q) - a scalable, app-based health survey linked to electronic health record and genotype data

Salvatore M., Clark-Boucher D., Fritsche L. G., Ortlieb J., Houghtby J., Driscoll A., Caldwell-Larkins B., Smith J. A., Brummett C. M., Kheterpal S., Lisabeth L., Mukherjee B.

Epidemiol Health

Why it matters: Clinical records include diagnoses, visits, and prescriptions but omit many aspects of a patient's experience. EPI-Q links standardized self-reports—including mood, depression, anxiety, stress, pain, and substance use—with genotype and EHR data. Its 10% response rate also means that participation bias must be considered.

• Biobanks & population cohorts
• AI & data science
• EHR & computational phenotyping

Exploring Healthy Retinal Aging with Deep Learning

Menten M. J., Holland R., Leingang O., Bogunovic H., Hagag A. M., Kaye R., Riedl S., Traber G. L., Hassan O. N., Pawlowski N., Glocker B., Fritsche L. G., Scholl H. P. N., Sivaprasad S., Schmidt-Erfurth U., Rueckert D., Lotery A. J.

Ophthalmol Sci

• AI & data science
• Eye disease & retinal imaging

The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients

Zawistowski M., Fritsche L. G., Pandit A., Vanderwerff B., Patil S., Schmidt E. M., VandeHaar P., Willer C. J., Brummett C. M., Kheterpal S., Zhou X., Boehnke M., Abecasis G. R., Zollner S.

Cell Genom

Why it matters: MGI illustrates how a health-system biobank can complement population-based cohorts. Recruiting through surgical care provides useful case counts for many clinical outcomes, even in a smaller cohort. That sampling design still needs to be considered when interpreting the results.

• Biobanks & population cohorts
• EHR & computational phenotyping
• Genetic discovery & methods

A fast linkage method for population GWAS cohorts with related individuals

Zajac G. J. M., Gagliano Taliun S. A., Sidore C., Graham S. E., Asvold B. O., Brumpton B., Nielsen J. B., Zhou W., Gabrielsen M., Skogholt A. H., Fritsche L. G., Schlessinger D., Cucca F., Hveem K., Willer C. J., Abecasis G. R.

Genet Epidemiol

• Genetic discovery & methods

COVID-19 Outcomes by Cancer Status, Site, Treatment, and Vaccination

Salvatore M., Hu M. M., Beesley L. J., Mondul A. M., Pearce C. L., Friese C. R., Fritsche L. G., Mukherjee B.

Cancer Epidemiol Biomarkers Prev

• Cancer & immunotherapy
• COVID-19, infection & immunity

Identifying the prevalence of clinically actionable drug-gene interactions in a health system biorepository to guide pharmacogenetics implementation services

Pasternak A. L., Ward K., Irwin M., Okerberg C., Hayes D., Fritsche L., Zoellner S., Virzi J., Choe H. M., Ellingrod V.

Clin Transl Sci

Why it matters: Pharmacogenetics matters clinically when a patient carries a relevant genotype and receives a medication whose dosing or effects may depend on it. In MGI, guideline-defined drug–gene interactions appeared across specialties, and nearly a quarter of evaluable patients had more than one. That pattern supports panel-based, system-wide implementation rather than tackling one gene and drug at a time.

• Biobanks & population cohorts
• Clinical translation & treatment response
• EHR & computational phenotyping

Developing and validating a multivariable prediction model which predicts progression of intermediate to late age-related macular degeneration-the PINNACLE trial protocol

Sutton J., Menten M. J., Riedl S., Bogunovic H., Leingang O., Anders P., Hagag A. M., Waldstein S., Wilson A., Cree A. J., Traber G., Fritsche L. G., Scholl H., Rueckert D., Schmidt-Erfurth U., Sivaprasad S., Prevost T., Lotery A.

Eye (Lond)

• Eye disease & retinal imaging
• Polygenic risk & prediction

COL11A1 is associated with developmental dysplasia of the hip and secondary osteoarthritis in the HUNT study

Jacobsen K. K., Borte S., Laborie L. B., Kristiansen H., Schafer A., Hunt All-In Pain, Gundersen T., Zayats T., Slagsvold Winsvold B. K., Rosendahl K.

Consortium credit: Lars G. Fritsche, HUNT All-In Pain. Authorship record

Osteoarthr Cartil Open

• Biobanks & population cohorts
• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Global Biobank analyses provide lessons for developing polygenic risk scores across diverse cohorts

Wang Y., Namba S., Lopera E., Kerminen S., Tsuo K., Lall K., Kanai M., Zhou W., Wu K. H., Fave M. J., Bhatta L., Awadalla P., Brumpton B., Deelen P., Hveem K., Lo Faro V., Magi R., Murakami Y., Sanna S., Smoller J. W., Uzunovic J., Wolford B. N., Global Biobank Meta-analysis Initiative, Willer C., Gamazon E. R., Cox N. J., Surakka I., Okada Y., Martin A. R., Hirbo J.

Consortium credit: Lars G. Fritsche, Global Biobank Meta-analysis Initiative. Authorship record

Cell Genom

• Ancestry, diversity & disparities
• Biobanks & population cohorts
• Polygenic risk & prediction
• Genetic discovery & methods

Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity

Bakker M. K., Kanning J. P., Abraham G., Martinsen A. E., Winsvold B. S., Zwart J. A., Bourcier R., Sawada T., Koido M., Kamatani Y., Morel S., Amouyel P., Debette S., Bijlenga P., Berrandou T., Ganesh S. K., Bouatia-Naji N., Jones G., Bown M., Rinkel G. J. E., Veldink J. H., Ruigrok Y. M., Hunt All-In Stroke Cadisp group International Consortium for Blood Pressure International Headache Genetics Consortium International Stroke Genetics Consortium Intracranial Aneurysm Working Group

Consortium credit: Lars G. Fritsche. Authorship record

Stroke

• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• Polygenic risk & prediction
• Genetic discovery & methods

Estimating COVID-19 Vaccination and Booster Effectiveness Using Electronic Health Records From an Academic Medical Center in Michigan

Roberts E. K., Gu T., Wagner A. L., Mukherjee B., Fritsche L. G.

AJPM Focus

• EHR & computational phenotyping
• COVID-19, infection & immunity

ExPRSweb: An online repository with polygenic risk scores for common health-related exposures

Ma Y., Patil S., Zhou X., Mukherjee B., Fritsche L. G.

American Journal of Human Genetics

Why it matters: Smoking, body mass, lipid levels, and other exposures that shape disease risk are absent or unevenly recorded in clinical data. ExPRSweb evaluates whether genetic predisposition to these exposures adds information to phenome-wide analyses and prediction. These genetic scores can complement measured exposure data, but they do not replace it.

• Biobanks & population cohorts
• EHR & computational phenotyping
• Polygenic risk & prediction

Assessing the added value of linking electronic health records to improve the prediction of self-reported COVID-19 testing and diagnosis

Clark-Boucher D., Boss J., Salvatore M., Smith J. A., Fritsche L. G., Mukherjee B.

PLOS ONE

• EHR & computational phenotyping
• COVID-19, infection & immunity
• Polygenic risk & prediction

The HUNT study: A population-based cohort for genetic research

Brumpton B. M., Graham S., Surakka I., Skogholt A. H., Loset M., Fritsche L. G., Wolford B., Zhou W., Nielsen J. B., Holmen O. L., Gabrielsen M. E., Thomas L., Bhatta L., Rasheed H., Zhang H., Kang H. M., Hornsby W., Moksnes M. R., Coward E., Melbye M., Giskeodegard G. F., Fenstad J., Krokstad S., Naess M., Langhammer A., Boehnke M., Abecasis G. R., Asvold B. O., Hveem K., Willer C. J.

Cell Genom

• Biobanks & population cohorts

Global Biobank Meta-analysis Initiative: Powering genetic discovery across human disease

Zhou W., Kanai M., Wu K. H., Rasheed H., Tsuo K., Hirbo J. B., Wang Y., Bhattacharya A., Zhao H., Namba S., Surakka I., Wolford B. N., Lo Faro V., Lopera-Maya E. A., Lall K., Fave M. J., Partanen J. J., Chapman S. B., Karjalainen J., Kurki M., Maasha M., Brumpton B. M., Chavan S., Chen T. T., Daya M., Ding Y., Feng Y. A., Guare L. A., Gignoux C. R., Graham S. E., Hornsby W. E., Ingold N., Ismail S. I., Johnson R., Laisk T., Lin K., Lv J., Millwood I. Y., Moreno-Grau S., Nam K., Palta P., Pandit A., Preuss M. H., Saad C., Setia-Verma S., Thorsteinsdottir U., Uzunovic J., Verma A., Zawistowski M., Zhong X., Afifi N., Al-Dabhani K. M., Al Thani A., Bradford Y., Campbell A., Crooks K., de Bock G. H., Damrauer S. M., Douville N. J., Finer S., Fritsche L. G., Fthenou E., Gonzalez-Arroyo G., Griffiths C. J., Guo Y., Hunt K. A., Ioannidis A., Jansonius N. M., Konuma T., Lee M. T. M., Lopez-Pineda A., Matsuda Y., Marioni R. E., Moatamed B., Nava-Aguilar M. A., Numakura K., Patil S., Rafaels N., Richmond A., Rojas-Munoz A., Shortt J. A., Straub P., Tao R., Vanderwerff B., Vernekar M., Veturi Y., Barnes K. C., Boezen M., Chen Z., Chen C. Y., Cho J., Smith G. D., Finucane H. K., Franke L., Gamazon E. R., Ganna A., Gaunt T. R., Ge T., Huang H., Huffman J., Katsanis N., Koskela J. T., Lajonchere C., Law M. H., Li L., Lindgren C. M., Loos R. J. F., MacGregor S., Matsuda K., Olsen C. M., Porteous D. J., Shavit J. A., Snieder H., Takano T., Trembath R. C., Vonk J. M., Whiteman D. C., Wicks S. J., Wijmenga C., Wright J., Zheng J., Zhou X., Awadalla P., Boehnke M., Bustamante C. D., Cox N. J., Fatumo S., Geschwind D. H., Hayward C., Hveem K., Kenny E. E., Lee S., Lin Y. F., Mbarek H., Magi R., Martin H. C., Medland S. E., Okada Y., Palotie A. V., Pasaniuc B., Rader D. J., Ritchie M. D., Sanna S., Smoller J. W., Stefansson K., van Heel D. A., Walters R. G., Zollner S., Biobank of the Americas, Biobank Japan Project, BioMe, BioVu, CanPath - Ontario Health Study, China Kadoorie Biobank Collaborative Group, Colorado Center for Personalized Medicine, de Code Genetics, Estonian Biobank, FinnGen, Generation Scotland, Genes, Health Research Team, LifeLines, Mass General Brigham Biobank, Michigan Genomics Initiative, National Biobank of Korea, Penn Medicine BioBank, Qatar Biobank, Q. Skin Sun, Health Study, Taiwan Biobank, Hunt Study, Ucla Atlas Community Health Initiative, Uganda Genome Resource, U. K. Biobank, Martin A. R., Willer C. J., Daly M. J., Neale B. M.

Cell Genom

• Ancestry, diversity & disparities
• Biobanks & population cohorts
• EHR & computational phenotyping
• Genetic discovery & methods

A Case-Crossover Phenome-wide association study (PheWAS) for understanding Post-COVID-19 diagnosis patterns

Haupert S. R., Shi X., Chen C., Fritsche L. G., Mukherjee B.

J Biomed Inform

• EHR & computational phenotyping
• COVID-19, infection & immunity
• Genetic discovery & methods

The construction of cross-population polygenic risk scores using transfer learning

Zhao Z., Fritsche L. G., Smith J. A., Mukherjee B., Lee S.

American Journal of Human Genetics

• Ancestry, diversity & disparities
• Biobanks & population cohorts
• AI & data science
• Polygenic risk & prediction
• Genetic discovery & methods

Polygenic Liability to Depression Is Associated With Multiple Medical Conditions in the Electronic Health Record: Phenome-wide Association Study of 46,782 Individuals

Fang Y., Fritsche L. G., Mukherjee B., Sen S., Richmond-Rakerd L. S.

Biol Psychiatry

Why it matters: In 46,782 MGI participants of European ancestry, a depression polygenic score was associated with diagnoses well beyond depression, including after patients with recorded depression were removed. The result informs COMPASS study design, but broad population associations should not be treated as predictions of an individual's response to treatment.

• Biobanks & population cohorts
• EHR & computational phenotyping
• Neurologic & mental health
• Polygenic risk & prediction
• Genetic discovery & methods

Genome-wide meta-analysis of iron status biomarkers and the effect of iron on all-cause mortality in HUNT

Moksnes M. R., Graham S. E., Wu K. H., Hansen A. F., Gagliano Taliun S. A., Zhou W., Thorstensen K., Fritsche L. G., Gill D., Mason A., Cucca F., Schlessinger D., Abecasis G. R., Burgess S., Asvold B. O., Nielsen J. B., Hveem K., Willer C. J., Brumpton B. M.

Commun Biol

• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Unbiased immune profiling reveals a natural killer cell-peripheral nerve axis in fibromyalgia

Verma V., Drury G. L., Parisien M., Ozdag Acarli A. N., Al-Aubodah T. A., Nijnik A., Wen X., Tugarinov N., Verner M., Klares R. 3rd, Linton A., Krock E., Morado Urbina C. E., Winsvold B., Fritsche L. G., Fors E. A., Piccirillo C., Khoutorsky A., Svensson C. I., Fitzcharles M. A., Ingelmo P. M., Bernard N. F., Dupuy F. P., Uceyler N., Sommer C., King I. L., Meloto C. B., Diatchenko L., HUNT-All In Pain

Pain

Why it matters: No single assay is likely to capture all of the biology underlying fibromyalgia. Across patient cohorts, flow cytometry, blood transcriptomics, genetic analyses, and skin biopsy each pointed toward altered natural killer (NK) cell biology, including NK cells near peripheral nerves. Together, the findings support further study of a possible role for NK cells, but they do not show that NK cells cause fibromyalgia.

• COVID-19, infection & immunity
• Pain, bone & musculoskeletal health

Global Prevalence of Post-Coronavirus Disease 2019 (COVID-19) Condition or Long COVID: A Meta-Analysis and Systematic Review

Chen C., Haupert S. R., Zimmermann L., Shi X., Fritsche L. G., Mukherjee B.

J Infect Dis

• COVID-19, infection & immunity

Stroke genetics informs drug discovery and risk prediction across ancestries

Mishra A., Malik R., Hachiya T., Jurgenson T., Namba S., Posner D. C., Kamanu F. K., Koido M., Le Grand Q., Shi M., He Y., Georgakis M. K., Caro I., Krebs K., Liaw Y. C., Vaura F. C., Lin K., Winsvold B. S., Srinivasasainagendra V., Parodi L., Bae H. J., Chauhan G., Chong M. R., Tomppo L., Akinyemi R., Roshchupkin G. V., Habib N., Jee Y. H., Thomassen J. Q., Abedi V., Carcel-Marquez J., Nygaard M., Leonard H. L., Yang C., Yonova-Doing E., Knol M. J., Lewis A. J., Judy R. L., Ago T., Amouyel P., Armstrong N. D., Bakker M. K., Bartz T. M., Bennett D. A., Bis J. C., Bordes C., Borte S., Cain A., Ridker P. M., Cho K., Chen Z., Cruchaga C., Cole J. W., de Jager P. L., de Cid R., Endres M., Ferreira L. E., Geerlings M. I., Gasca N. C., Gudnason V., Hata J., He J., Heath A. K., Ho Y. L., Havulinna A. S., Hopewell J. C., Hyacinth H. I., Inouye M., Jacob M. A., Jeon C. E., Jern C., Kamouchi M., Keene K. L., Kitazono T., Kittner S. J., Konuma T., Kumar A., Lacaze P., Launer L. J., Lee K. J., Lepik K., Li J., Li L., Manichaikul A., Markus H. S., Marston N. A., Meitinger T., Mitchell B. D., Montellano F. A., Morisaki T., Mosley T. H., Nalls M. A., Nordestgaard B. G., O'Donnell M. J., Okada Y., Onland-Moret N. C., Ovbiagele B., Peters A., Psaty B. M., Rich S. S., Rosand J., Sabatine M. S., Sacco R. L., Saleheen D., Sandset E. C., Salomaa V., Sargurupremraj M., Sasaki M., Satizabal C. L., Schmidt C. O., Shimizu A., Smith N. L., Sloane K. L., Sutoh Y., Sun Y. V., Tanno K., Tiedt S., Tatlisumak T., Torres-Aguila N. P., Tiwari H. K., Tregouet D. A., Trompet S., Tuladhar A. M., Tybjaerg-Hansen A., van Vugt M., Vibo R., Verma S. S., Wiggins K. L., Wennberg P., Woo D., Wilson P. W. F., Xu H., Yang Q., Yoon K., Compass Consortium, Invent Consortium, Dutch Parelsnoer Initiative Cerebrovascular Disease Study Group, Estonian Biobank, Precise Q. Consortium, FinnGen Consortium, Ninds Stroke Genetics Network, Megastroke Consortium, Siren Consortium, China Kadoorie Biobank Collaborative Group, V. A. Million Veteran Program, International Stroke Genetics Consortium, Biobank Japan, Charge Consortium, Gigastroke Consortium, Millwood I. Y., Gieger C., Ninomiya T., Grabe H. J., Jukema J. W., Rissanen I. L., Strbian D., Kim Y. J., Chen P. H., Mayerhofer E., Howson J. M. M., Irvin M. R., Adams H., Wassertheil-Smoller S., Christensen K., Ikram M. A., Rundek T., Worrall B. B., Lathrop G. M., Riaz M., Simonsick E. M., Korv J., Franca P. H. C., Zand R., Prasad K., Frikke-Schmidt R., de Leeuw F. E., Liman T., Haeusler K. G., Ruigrok Y. M., Heuschmann P. U., Longstreth W. T., Jung K. J., Bastarache L., Pare G., Damrauer S. M., Chasman D. I., Rotter J. I., Anderson C. D., Zwart J. A., Niiranen T. J., Fornage M., Liaw Y. P., Seshadri S., Fernandez-Cadenas I., Walters R. G., Ruff C. T., Owolabi M. O., Huffman J. E., Milani L., Kamatani Y., Dichgans M., Debette S.

Consortium credit: Lars G. Fritsche, HUNT All-In Stroke / GIGASTROKE Consortium. Authorship record

Nature

• Ancestry, diversity & disparities
• Cardiovascular, metabolic & renal health
• Polygenic risk & prediction
• Genetic discovery & methods

Genome-wide analysis identifies impaired axonogenesis in chronic overlapping pain conditions

Khoury S., Parisien M., Thompson S. J., Vachon-Presseau E., Roy M., Martinsen A. E., Winsvold B. S., Hunt All-In Pain, Mundal I. P., Zwart J. A., Kania A., Mogil J. S., Diatchenko L.

Consortium credit: Lars Fritsche, HUNT All-In Pain. Authorship record

Brain

Why it matters: Combining all chronic pain locations into one phenotype can obscure important biological differences. Genetic contributions were stronger for multisite than single-site pain; nine of 23 multisite loci replicated in HUNT, while functional genomics and brain imaging pointed toward axonogenesis and corticolimbic circuitry. The results also depend on how researchers define the pain phenotype.

• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Dissecting the shared genetic basis of migraine and mental disorders using novel statistical tools

Bahrami S., Hindley G., Winsvold B. S., O'Connell K. S., Frei O., Shadrin A., Cheng W., Bettella F., Rodevand L., Odegaard K. J., Fan C. C., Pirinen M. J., Hautakangas H. M., Hunt All-In Headache, Dale A. M., Djurovic S., Smeland O. B., Andreassen O. A.

Consortium credit: Lars G. Fritsche, HUNT All-In Headache. Authorship record

Brain

• Neurologic & mental health
• Genetic discovery & methods

Understanding the Patterns of Serological Testing for COVID-19 Pre- and Post-Vaccination Rollout in Michigan

Zhao Z., Salerno S., Shi X., Lee S., Mukherjee B., Fritsche L. G.

Journal of Clinical Medicine

• EHR & computational phenotyping
• COVID-19, infection & immunity

On cross-ancestry cancer polygenic risk scores

Fritsche L. G., Ma Y., Zhang D., Salvatore M., Lee S., Zhou X., Mukherjee B.

PLOS Genetics

Why it matters: Breast and prostate cancer scores built from genome-wide association studies in people of European ancestry performed differently across ancestry groups in UK Biobank, so the same absolute cutoff did not apply to every group. Within each group, rankings still separated people by risk. The paper shows the difference between a score that ranks risk within a group and one that can be interpreted the same way across groups.

• Ancestry, diversity & disparities
• Cancer & immunotherapy
• Polygenic risk & prediction

Changes in COVID-19-related outcomes, potential risk factors and disparities over time

Yu, Y., Gu, T., Valley, T. S., Mukherjee, B., Fritsche, L. G.

Epidemiology & Infection

• Ancestry, diversity & disparities
• COVID-19, infection & immunity

Type 2 diabetes sex-specific effects associated with E167K coding variant in TM6SF2

Fan Y., Wolford B. N., Lu H., Liang W., Sun J., Zhou W., Rom O., Mahajan A., Surakka I., Graham S. E., Liu Z., Kim H., Ramdas S., Fritsche L. G., Nielsen J. B., Gabrielsen M. E., Hveem K., Yang D., Song J., Garcia-Barrio M. T., Zhang J., Liu W., Zhang K., Willer C. J., Chen Y. E.

iScience

• Cardiovascular, metabolic & renal health

A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease

Wightman D. P., Jansen I. E., Savage J. E., Shadrin A. A., Bahrami S., Holland D., Rongve A., Borte S., Winsvold B. S., Drange O. K., Martinsen A. E., Skogholt A. H., Willer C., Brathen G., Bosnes I., Nielsen J. B., Fritsche L. G., Thomas L. F., Pedersen L. M., Gabrielsen M. E., Johnsen M. B., Meisingset T. W., Zhou W., Proitsi P., Hodges A., Dobson R., Velayudhan L., Heilbron K., Auton A., andMe Research Team, Sealock J. M., Davis L. K., Pedersen N. L., Reynolds C. A., Karlsson I. K., Magnusson S., Stefansson H., Thordardottir S., Jonsson P. V., Snaedal J., Zettergren A., Skoog I., Kern S., Waern M., Zetterberg H., Blennow K., Stordal E., Hveem K., Zwart J. A., Athanasiu L., Selnes P., Saltvedt I., Sando S. B., Ulstein I., Djurovic S., Fladby T., Aarsland D., Selbaek G., Ripke S., Stefansson K., Andreassen O. A., Posthuma D.

Nature Genetics

• Neurologic & mental health
• Genetic discovery & methods

Cluster Analysis and Genotype-Phenotype Assessment of Geographic Atrophy in Age-Related Macular Degeneration: Age-Related Eye Disease Study 2 Report 25

Keenan T. D. L., Oden N. L., Agron E., Clemons T. E., Henning A., Fritsche L. G., Wong W. T., Chew E. Y., Age-Related Eye Disease Study 2 Research Group

Ophthalmol Retina

• Eye disease & retinal imaging

Genome-wide association study of cardiac troponin I in the general population

Moksnes M. R., Rosjo H., Richmond A., Lyngbakken M. N., Graham S. E., Hansen A. F., Wolford B. N., Gagliano Taliun S. A., LeFaive J., Rasheed H., Thomas L. F., Zhou W., Aung N., Surakka I., Douville N. J., Campbell A., Porteous D. J., Petersen S. E., Munroe P. B., Welsh P., Sattar N., Smith G. D., Fritsche L. G., Nielsen J. B., Asvold B. O., Hveem K., Hayward C., Willer C. J., Brumpton B. M., Omland T.

Human Molecular Genetics

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Genome-wide analysis of 944 133 individuals provides insights into the etiology of haemorrhoidal disease

Zheng T., Ellinghaus D., Juzenas S., Cossais F., Burmeister G., Mayr G., Jorgensen I. F., Teder-Laving M., Skogholt A. H., Chen S., Strege P. R., Ito G., Banasik K., Becker T., Bokelmann F., Brunak S., Buch S., Clausnitzer H., Datz C., Dbds Consortium, Degenhardt F., Doniec M., Erikstrup C., Esko T., Forster M., Frey N., Fritsche L. G., Gabrielsen M. E., Grassle T., Gsur A., Gross J., Hampe J., Hendricks A., Hinz S., Hveem K., Jongen J., Junker R., Karlsen T. H., Hemmrich-Stanisak G., Kruis W., Kupcinskas J., Laubert T., Rosenstiel P. C., Rocken C., Laudes M., Leendertz F. H., Lieb W., Limperger V., Margetis N., Matz-Rensing K., Nemeth C. G., Ness-Jensen E., Nowak-Gottl U., Pandit A., Pedersen O. B., Peleikis H. G., Peuker K., Rodriguez C. L., Ruhlemann M. C., Schniewind B., Schulzky M., Skieceviciene J., Tepel J., Thomas L., Uellendahl-Werth F., Ullum H., Vogel I., Volzke H., von Fersen L., von Schonfels W., Vanderwerff B., Wilking J., Wittig M., Zeissig S., Zobel M., Zawistowski M., Vacic V., Sazonova O., Noblin E. S., andMe Research Team, Farrugia G., Beyder A., Wedel T., Kahlke V., Schafmayer C., D'Amato M., Franke A.

Gut

• Genetic discovery & methods

A Phenome-Wide Association Study (PheWAS) of COVID-19 Outcomes by Race Using the Electronic Health Records Data in Michigan Medicine

Salvatore M., Gu T., Mack J. A., Prabhu Sankar S., Patil S., Valley T. S., Singh K., Nallamothu B. K., Kheterpal S., Lisabeth L., Fritsche L. G., Mukherjee B.

Journal of Clinical Medicine

• Ancestry, diversity & disparities
• EHR & computational phenotyping
• COVID-19, infection & immunity
• Genetic discovery & methods

A powerful subset-based method identifies gene set associations and improves interpretation in UK Biobank

Dutta D., VandeHaar P., Fritsche L. G., Zollner S., Boehnke M., Scott L. J., Lee S.

American Journal of Human Genetics

• Biobanks & population cohorts
• Genetic discovery & methods

Phenotype risk scores (PheRS) for pancreatic cancer using time-stamped electronic health record data: Discovery and validation in two large biobanks

Salvatore M., Beesley L. J., Fritsche L. G., Hanauer D., Shi X., Mondul A. M., Pearce C. L., Mukherjee B.

J Biomed Inform

Why it matters: Adding timing to diagnosis codes made the phenotype more informative than a simple comorbidity list. A pancreatic cancer phenotype score built in the Michigan Genomics Initiative (MGI) from records five years before diagnosis also showed an association in UK Biobank and added information beyond a cancer polygenic risk score (PRS) and standard risk factors. This shows what longitudinal phenotyping and external validation can contribute.

• Biobanks & population cohorts
• Cancer & immunotherapy
• EHR & computational phenotyping
• Polygenic risk & prediction
• Genetic discovery & methods

Patterns of repeated diagnostic testing for COVID-19 in relation to patient characteristics and outcomes

Salerno S., Zhao Z., Prabhu Sankar S., Salvatore M., Gu T., Fritsche L. G., Lee S., Lisabeth L. D., Valley T. S., Mukherjee B.

J Intern Med

• COVID-19, infection & immunity

Assessment of a causal relationship between body mass index and atopic dermatitis

Budu-Aggrey A., Watkins S. H., Brumpton B., Loset M., Tyrrell J., Modalsli E. H., Vie G. A., Palmer T., Fritsche L. G., Nielsen J. B., Romundstad P. R., Davey Smith G., Asvold B. O., Paternoster L., Brown S. J.

J Allergy Clin Immunol

• Cardiovascular, metabolic & renal health
• COVID-19, infection & immunity

Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration: A Mendelian Randomization Study

Kuan V., Warwick A., Hingorani A., Tufail A., Cipriani V., Burgess S., Sofat R., International A. M. D. Genomics Consortium

Consortium credit: Lars G. Fritsche, International AMD Genomics Consortium (IAMDGC). Authorship record

JAMA Ophthalmol

• Cardiovascular, metabolic & renal health
• Eye disease & retinal imaging
• Genetic discovery & methods

Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations

Boer C. G., Hatzikotoulas K., Southam L., Stefansdottir L., Zhang Y., Coutinho de Almeida R., Wu T. T., Zheng J., Hartley A., Teder-Laving M., Skogholt A. H., Terao C., Zengini E., Alexiadis G., Barysenka A., Bjornsdottir G., Gabrielsen M. E., Gilly A., Ingvarsson T., Johnsen M. B., Jonsson H., Kloppenburg M., Luetge A., Lund S. H., Magi R., Mangino M., Nelissen Rrghh, Shivakumar M., Steinberg J., Takuwa H., Thomas L. F., Tuerlings M., arc Ogen Consortium, Hunt All-In Pain, Argo Consortium, Regeneron Genetics Center, Babis G. C., Cheung J. P. Y., Kang J. H., Kraft P., Lietman S. A., Samartzis D., Slagboom P. E., Stefansson K., Thorsteinsdottir U., Tobias J. H., Uitterlinden A. G., Winsvold B., Zwart J. A., Davey Smith G., Sham P. C., Thorleifsson G., Gaunt T. R., Morris A. P., Valdes A. M., Tsezou A., Cheah K. S. E., Ikegawa S., Hveem K., Esko T., Wilkinson J. M., Meulenbelt I., Lee M. T. M., van Meurs J. B. J., Styrkarsdottir U., Zeggini E.

Consortium credit: Lars G. Fritsche, HUNT All-In Pain. Authorship record

Cell

• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Genome-wide association study identifies RNF123 locus as associated with chronic widespread musculoskeletal pain

Rahman M. S., Winsvold B. S., Chavez Chavez S. O., Borte S., Tsepilov Y. A., Sharapov S. Z., Hunt All-In Pain, Aulchenko Y. S., Hagen K., Fors E. A., Hveem K., Zwart J. A., van Meurs J. B., Freidin M. B., Williams F. M.

Consortium credit: Lars Fritsche, HUNT All-In Pain. Authorship record

Ann Rheum Dis

• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Model-based assessment of replicability for genome-wide association meta-analysis

McGuire D., Jiang Y., Liu M., Weissenkampen J. D., Eckert S., Yang L., Chen F., Gwas, Sequencing Consortium of Alcohol, Nicotine Use, Berg A., Vrieze S., Jiang B., Li Q., Liu D. J.

Consortium credit: Lars G. Fritsche, GWAS and Sequencing Consortium of Alcohol and Nicotine Use (GSCAN). Authorship record

Nature Communications

• Genetic discovery & methods

MEPE loss-of-function variant associates with decreased bone mineral density and increased fracture risk

Surakka I., Fritsche L. G., Zhou W., Backman J., Kosmicki J. A., Lu H., Brumpton B., Nielsen J. B., Gabrielsen M. E., Skogholt A. H., Wolford B., Graham S. E., Chen Y. E., Lee S., Kang H. M., Langhammer A., Forsmo S., Asvold B. O., Styrkarsdottir U., Holm H., Gudbjartsson D., Stefansson K., Baras A., Regeneron Genetics Center, Abecasis G. R., Hveem K., Willer C. J.

Nature Communications

• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Characteristics Associated With Racial/Ethnic Disparities in COVID-19 Outcomes in an Academic Health Care System

Gu T., Mack J. A., Salvatore M., Prabhu Sankar S., Valley T. S., Singh K., Nallamothu B. K., Kheterpal S., Lisabeth L., Fritsche L. G., Mukherjee B.

JAMA Network Open

• Ancestry, diversity & disparities
• EHR & computational phenotyping
• COVID-19, infection & immunity

Cancer PRSweb: An Online Repository with Polygenic Risk Scores for Major Cancer Traits and Their Evaluation in Two Independent Biobanks

Fritsche L. G., Patil S., Beesley L. J., VandeHaar P., Salvatore M., Ma Y., Peng R. B., Taliun D., Zhou X., Mukherjee B.

American Journal of Human Genetics

Why it matters: Cancer PRSweb evaluated published cancer scores with the same methods in two independent biobanks. The side-by-side results show how performance differs by source GWAS, score-building method, phenotype definition, and cohort.

• Biobanks & population cohorts
• Cancer & immunotherapy
• EHR & computational phenotyping
• Polygenic risk & prediction

A Novel Variant in APOB Gene Causes Extremely Low LDL-C Without Known Adverse Effects

Surakka I., Hornsby W. E., Farhat L., Rubenfire M., Fritsche L. G., Hveem K., Chen Y. E., Brook R. D., Willer C. J., Weinberg R. L.

JACC Case Rep

• Cardiovascular, metabolic & renal health

Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease

Nielsen J. B., Rom O., Surakka I., Graham S. E., Zhou W., Roychowdhury T., Fritsche L. G., Gagliano Taliun S. A., Sidore C., Liu Y., Gabrielsen M. E., Skogholt A. H., Wolford B., Overton W., Zhao Y., Chen J., Zhang H., Hornsby W. E., Acheampong A., Grooms A., Schaefer A., Zajac G. J. M., Villacorta L., Zhang J., Brumpton B., Loset M., Rai V., Lundegaard P. R., Olesen M. S., Taylor K. D., Palmer N. D., Chen Y. D., Choi S. H., Lubitz S. A., Ellinor P. T., Barnes K. C., Daya M., Rafaels N., Weiss S. T., Lasky-Su J., Tracy R. P., Vasan R. S., Cupples L. A., Mathias R. A., Yanek L. R., Becker L. C., Peyser P. A., Bielak L. F., Smith J. A., Aslibekyan S., Hidalgo B. A., Arnett D. K., Irvin M. R., Wilson J. G., Musani S. K., Correa A., Rich S. S., Guo X., Rotter J. I., Konkle B. A., Johnsen J. M., Ashley-Koch A. E., Telen M. J., Sheehan V. A., Blangero J., Curran J. E., Peralta J. M., Montgomery C., Sheu W. H., Chung R. H., Schwander K., Nouraie S. M., Gordeuk V. R., Zhang Y., Kooperberg C., Reiner A. P., Jackson R. D., Bleecker E. R., Meyers D. A., Li X., Das S., Yu K., LeFaive J., Smith A., Blackwell T., Taliun D., Zollner S., Forer L., Schoenherr S., Fuchsberger C., Pandit A., Zawistowski M., Kheterpal S., Brummett C. M., Natarajan P., Schlessinger D., Lee S., Kang H. M., Cucca F., Holmen O. L., Asvold B. O., Boehnke M., Kathiresan S., Abecasis G. R., Chen Y. E., Willer C. J., Hveem K.

Nature Communications

• Cardiovascular, metabolic & renal health
• Clinical translation & treatment response

The Effect of Genetic Variants Associated With Age-Related Macular Degeneration Varies With Age

Schick T., Lores-Motta L., Altay L., Fritsche L. G., den Hollander A. I., Fauser S.

Investigative Ophthalmology & Visual Science

• Eye disease & retinal imaging

Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract

Yonova-Doing E., Zhao W., Igo R. P. Jr., Wang C., Sundaresan P., Lee K. E., Jun G. R., Alves A. C., Chai X., Chan A. S. Y., Lee M. C., Fong A., Tan A. G., Khor C. C., Chew E. Y., Hysi P. G., Fan Q., Chua J., Chung J., Liao J., Colijn J. M., Burdon K. P., Fritsche L. G., Swift M. K., Hilmy M. H., Chee M. L., Tedja M., Bonnemaijer P. W. M., Gupta P., Tan Q. S., Li Z., Vithana E. N., Ravindran R. D., Chee S. P., Shi Y., Liu W., Su X., Sim X., Shen Y., Wang Y. X., Li H., Tham Y. C., Teo Y. Y., Aung T., Small K. S., Mitchell P., Jonas J. B., Wong T. Y., Fletcher A. E., Klaver C. C. W., Klein B. E. K., Wang J. J., Iyengar S. K., Hammond C. J., Cheng C. Y.

Commun Biol

• Eye disease & retinal imaging

LabWAS: Novel findings and study design recommendations from a meta-analysis of clinical labs in two independent biobanks

Goldstein J. A., Weinstock J. S., Bastarache L. A., Larach D. B., Fritsche L. G., Schmidt E. M., Brummett C. M., Kheterpal S., Abecasis G. R., Denny J. C., Zawistowski M.

PLOS Genetics

• Biobanks & population cohorts
• EHR & computational phenotyping
• Genetic discovery & methods

Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program

Klarin D., Verma S. S., Judy R., Dikilitas O., Wolford B. N., Paranjpe I., Levin M. G., Pan C., Tcheandjieu C., Spin J. M., Lynch J., Assimes T. L., Aldstedt Nyronning L., Mattsson E., Edwards T. L., Denny J., Larson E., Lee M. T. M., Carrell D., Zhang Y., Jarvik G. P., Gharavi A. G., Harley J., Mentch F., Pacheco J. A., Hakonarson H., Skogholt A. H., Thomas L., Gabrielsen M. E., Hveem K., Nielsen J. B., Zhou W., Fritsche L., Huang J., Natarajan P., Sun Y. V., DuVall S. L., Rader D. J., Cho K., Chang K. M., Wilson P. W. F., O'Donnell C. J., Kathiresan S., Scali S. T., Berceli S. A., Willer C., Jones G. T., Bown M. J., Nadkarni G., Kullo I. J., Ritchie M., Damrauer S. M., Tsao P. S., Veterans Affairs Million Veteran Programdagger

Circulation

• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

GWAS of thyroid stimulating hormone highlights pleiotropic effects and inverse association with thyroid cancer

Zhou W., Brumpton B., Kabil O., Gudmundsson J., Thorleifsson G., Weinstock J., Zawistowski M., Nielsen J. B., Chaker L., Medici M., Teumer A., Naitza S., Sanna S., Schultheiss U. T., Cappola A., Karjalainen J., Kurki M., Oneka M., Taylor P., Fritsche L. G., Graham S. E., Wolford B. N., Overton W., Rasheed H., Haug E. B., Gabrielsen M. E., Skogholt A. H., Surakka I., Davey Smith G., Pandit A., Roychowdhury T., Hornsby W. E., Jonasson J. G., Senter L., Liyanarachchi S., Ringel M. D., Xu L., Kiemeney L. A., He H., Netea-Maier R. T., Mayordomo J. I., Plantinga T. S., Hrafnkelsson J., Hjartarson H., Sturgis E. M., Palotie A., Daly M., Citterio C. E., Arvan P., Brummett C. M., Boehnke M., de la Chapelle A., Stefansson K., Hveem K., Willer C. J., Asvold B. O.

Nature Communications

• Cancer & immunotherapy
• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Age-of-onset information helps identify 76 genetic variants associated with allergic disease

Ferreira M. A. R., Vonk J. M., Baurecht H., Marenholz I., Tian C., Hoffman J. D., Helmer Q., Tillander A., Ullemar V., Lu Y., Grosche S., Ruschendorf F., Granell R., Brumpton B. M., Fritsche L. G., Bhatta L., Gabrielsen M. E., Nielsen J. B., Zhou W., Hveem K., Langhammer A., Holmen O. L., Loset M., Abecasis G. R., Willer C. J., Emami N. C., Cavazos T. B., Witte J. S., Szwajda A., andMe Research Team, collaborators of the Share study, Hinds D. A., Hubner N., Weidinger S., Magnusson P. K., Jorgenson E., Karlsson R., Paternoster L., Boomsma D. I., Almqvist C., Lee Y. A., Koppelman G. H.

PLOS Genetics

• COVID-19, infection & immunity
• Genetic discovery & methods

A Fast and Accurate Method for Genome-Wide Time-to-Event Data Analysis and Its Application to UK Biobank

Bi W., Fritsche L. G., Mukherjee B., Kim S., Lee S.

American Journal of Human Genetics

• Biobanks & population cohorts
• Genetic discovery & methods

Exploring and visualizing large-scale genetic associations by using PheWeb

Gagliano Taliun S. A., VandeHaar P., Boughton A. P., Welch R. P., Taliun D., Schmidt E. M., Zhou W., Nielsen J. B., Willer C. J., Lee S., Fritsche L. G., Boehnke M., Abecasis G. R.

Nature Genetics

• AI & data science
• EHR & computational phenotyping
• Genetic discovery & methods

Scalable generalized linear mixed model for region-based association tests in large biobanks and cohorts

Zhou W., Zhao Z., Nielsen J. B., Fritsche L. G., LeFaive J., Gagliano Taliun S. A., Bi W., Gabrielsen M. E., Daly M. J., Neale B. M., Hveem K., Abecasis G. R., Willer C. J., Lee S.

Nature Genetics

• Biobanks & population cohorts
• Genetic discovery & methods

Genome-wide association meta-analyses combining multiple risk phenotypes provide insights into the genetic architecture of cutaneous melanoma susceptibility

Landi M. T., Bishop D. T., MacGregor S., Machiela M. J., Stratigos A. J., Ghiorzo P., Brossard M., Calista D., Choi J., Fargnoli M. C., Zhang T., Rodolfo M., Trower A. J., Menin C., Martinez J., Hadjisavvas A., Song L., Stefanaki I., Scolyer R., Yang R., Goldstein A. M., Potrony M., Kypreou K. P., Pastorino L., Queirolo P., Pellegrini C., Cattaneo L., Zawistowski M., Gimenez-Xavier P., Rodriguez A., Elefanti L., Manoukian S., Rivoltini L., Smith B. H., Loizidou M. A., Del Regno L., Massi D., Mandala M., Khosrotehrani K., Akslen L. A., Amos C. I., Andresen P. A., Avril M. F., Azizi E., Soyer H. P., Bataille V., Dalmasso B., Bowdler L. M., Burdon K. P., Chen W. V., Codd V., Craig J. E., Debniak T., Falchi M., Fang S., Friedman E., Simi S., Galan P., Garcia-Casado Z., Gillanders E. M., Gordon S., Green A., Gruis N. A., Hansson J., Harland M., Harris J., Helsing P., Henders A., Hocevar M., Hoiom V., Hunter D., Ingvar C., Kumar R., Lang J., Lathrop G. M., Lee J. E., Li X., Lubinski J., Mackie R. M., Malt M., Malvehy J., McAloney K., Mohamdi H., Molven A., Moses E. K., Neale R. E., Novakovic S., Nyholt D. R., Olsson H., Orr N., Fritsche L. G., Puig-Butille J. A., Qureshi A. A., Radford-Smith G. L., Randerson-Moor J., Requena C., Rowe C., Samani N. J., Sanna M., Schadendorf D., Schulze H. J., Simms L. A., Smithers M., Song F., Swerdlow A. J., van der Stoep N., Kukutsch N. A., Visconti A., Wallace L., Ward S. V., Wheeler L., Sturm R. A., Hutchinson A., Jones K., Malasky M., Vogt A., Zhou W., Pooley K. A., Elder D. E., Han J., Hicks B., Hayward N. K., Kanetsky P. A., Brummett C., Montgomery G. W., Olsen C. M., Hayward C., Dunning A. M., Martin N. G., Evangelou E., Mann G. J., Long G., Pharoah P. D. P., Easton D. F., Barrett J. H., Cust A. E., Abecasis G., Duffy D. L., Whiteman D. C., Gogas H., De Nicolo A., Tucker M. A., Newton-Bishop J. A., Geno M. E. L. Consortium, Q Mega, Qtwin Investigators, Athens Melanoma Study Group, andMe, S. D. H. Study Group, I. B. D. Investigators, Essen-Heidelberg Investigators, Amfs Investigators, MelaNostrum Consortium, Peris K., Chanock S. J., Demenais F., Brown K. M., Puig S., Nagore E., Shi J., Iles M. M., Law M. H.

Nature Genetics

• Cancer & immunotherapy
• Genetic discovery & methods

An analytic framework for exploring sampling and observation process biases in genome and phenome-wide association studies using electronic health records

Beesley L. J., Fritsche L. G., Mukherjee B.

Stat Med

• EHR & computational phenotyping
• Genetic discovery & methods

Mitochondrial genome-wide association study of migraine - the HUNT Study

Borte S., Zwart J. A., Skogholt A. H., Gabrielsen M. E., Thomas L. F., Fritsche L. G., Surakka I., Nielsen J. B., Zhou W., Wolford B. N., Vigeland M. D., Hagen K., Kristoffersen E. S., Nyholt D. R., Chasman D. I., Brumpton B. M., Willer C. J., Winsvold B. S.

Cephalalgia

• Biobanks & population cohorts
• Neurologic & mental health
• Genetic discovery & methods

UK Biobank Whole-Exome Sequence Binary Phenome Analysis with Robust Region-Based Rare-Variant Test

Zhao Z., Bi W., Zhou W., VandeHaar P., Fritsche L. G., Lee S.

American Journal of Human Genetics

• Biobanks & population cohorts
• Genetic discovery & methods

The emerging landscape of health research based on biobanks linked to electronic health records: Existing resources, statistical challenges, and potential opportunities

Beesley L. J., Salvatore M., Fritsche L. G., Pandit A., Rao A., Brummett C., Willer C. J., Lisabeth L. D., Mukherjee B.

Stat Med

Why it matters: Biobank scale does not make study-design problems disappear. This paper examines recurring issues—including who is recruited, how phenotypes are defined, and when data are missing—and uses MGI and UK Biobank to show why the same analysis can mean different things in different cohorts.

• Biobanks & population cohorts
• EHR & computational phenotyping

Heritability of the Fibromyalgia Phenotype Varies by Age

Dutta D., Brummett C. M., Moser S. E., Fritsche L. G., Tsodikov A., Lee S., Clauw D. J., Scott L. J.

Arthritis Rheumatol

• Pain, bone & musculoskeletal health
• Genetic discovery & methods

Prediction of Ankylosing Spondylitis in the HUNT Study by a Genetic Risk Score Combining 110 Single-nucleotide Polymorphisms of Genome-wide Significance

Rostami S., Hoff M., Brown M. A., Hveem K., Holmen O. L., Fritsche L. G., Videm V.

J Rheumatol

• Biobanks & population cohorts
• Pain, bone & musculoskeletal health
• Polygenic risk & prediction
• Genetic discovery & methods

Validating Online Measures of Cognitive Ability in Genes for Good, a Genetic Study of Health and Behavior

Liu M., Rea-Sandin G., Foerster J., Fritsche L., Brieger K., Clark C., Li K., Pandit A., Zajac G., Abecasis G. R., Vrieze S.

Assessment

• Biobanks & population cohorts
• Neurologic & mental health

A transcriptome-wide association study based on 27 tissues identifies 106 genes potentially relevant for disease pathology in age-related macular degeneration

Strunz T., Lauwen S., Kiel C., International A. M. D. Genomics Consortium, Hollander A. D., Weber B. H. F.

Consortium credit: Lars G. Fritsche, International AMD Genomics Consortium (IAMDGC). Authorship record

Sci Rep

• Eye disease & retinal imaging
• Genetic discovery & methods

Exploring various polygenic risk scores for skin cancer in the phenomes of the Michigan genomics initiative and the UK Biobank with a visual catalog: PRSWeb

Fritsche L. G., Beesley L. J., VandeHaar P., Peng R. B., Salvatore M., Zawistowski M., Gagliano Taliun S. A., Das S., LeFaive J., Kaleba E. O., Klumpner T. T., Moser S. E., Blanc V. M., Brummett C. M., Kheterpal S., Abecasis G. R., Gruber S. B., Mukherjee B.

PLOS Genetics

Why it matters: The first PRSweb study compared scores directly rather than simply listing them. Comparisons of methods and skin-cancer subtypes across MGI and UK Biobank showed how phenotype definition and cohort context affect the result. The visual catalog made those comparisons available for others to inspect and reuse.

• Biobanks & population cohorts
• Cancer & immunotherapy
• EHR & computational phenotyping
• Polygenic risk & prediction

A Fast and Accurate Method for Genome-wide Scale Phenome-wide G x E Analysis and Its Application to UK Biobank

Bi W., Zhao Z., Dey R., Fritsche L. G., Mukherjee B., Lee S.

American Journal of Human Genetics

• Biobanks & population cohorts
• EHR & computational phenotyping
• Genetic discovery & methods

Estimation of DNA contamination and its sources in genotyped samples

Zajac G. J. M., Fritsche L. G., Weinstock J. S., Dagenais S. L., Lyons R. H., Brummett C. M., Abecasis G. R.

Genet Epidemiol

• Genetic discovery & methods

Meta-MultiSKAT: Multiple phenotype meta-analysis for region-based association test

Dutta D., Gagliano Taliun S. A., Weinstock J. S., Zawistowski M., Sidore C., Fritsche L. G., Cucca F., Schlessinger D., Abecasis G. R., Brummett C. M., Lee S.

Genet Epidemiol

• Genetic discovery & methods

Genes for Good: Engaging the Public in Genetics Research via Social Media

Brieger K., Zajac G. J. M., Pandit A., Foerster J. R., Li K. W., Annis A. C., Schmidt E. M., Clark C. P., McMorrow K., Zhou W., Yang J., Kwong A. M., Boughton A. P., Wu J., Scheller C., Parikh T., de la Vega A., Brazel D. M., Frieser M., Rea-Sandin G., Fritsche L. G., Vrieze S. I., Abecasis G. R.

American Journal of Human Genetics

• Biobanks & population cohorts
• Genetic discovery & methods

Sex-specific and pleiotropic effects underlying kidney function identified from GWAS meta-analysis

Graham S. E., Nielsen J. B., Zawistowski M., Zhou W., Fritsche L. G., Gabrielsen M. E., Skogholt A. H., Surakka I., Hornsby W. E., Fermin D., Larach D. B., Kheterpal S., Brummett C. M., Lee S., Kang H. M., Abecasis G. R., Romundstad S., Hallan S., Sampson M. G., Hveem K., Willer C. J.

Nature Communications

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Robust meta-analysis of biobank-based genome-wide association studies with unbalanced binary phenotypes

Dey R., Nielsen J. B., Fritsche L. G., Zhou W., Zhu H., Willer C. J., Lee S.

Genet Epidemiol

• Biobanks & population cohorts
• Genetic discovery & methods

Retinal transcriptome and eQTL analyses identify genes associated with age-related macular degeneration

Ratnapriya R., Sosina O. A., Starostik M. R., Kwicklis M., Kapphahn R. J., Fritsche L. G., Walton A., Arvanitis M., Gieser L., Pietraszkiewicz A., Montezuma S. R., Chew E. Y., Battle A., Abecasis G. R., Ferrington D. A., Chatterjee N., Swaroop A.

Nature Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

Evidence of a causal relationship between body mass index and psoriasis: A mendelian randomization study

Budu-Aggrey A., Brumpton B., Tyrrell J., Watkins S., Modalsli E. H., Celis-Morales C., Ferguson L. D., Vie G. A., Palmer T., Fritsche L. G., Loset M., Nielsen J. B., Zhou W., Tsoi L. C., Wood A. R., Jones S. E., Beaumont R., Saunes M., Romundstad P. R., Siebert S., McInnes I. B., Elder J. T., Davey Smith G., Frayling T. M., Asvold B. O., Brown S. J., Sattar N., Paternoster L.

PLoS Med

• Cardiovascular, metabolic & renal health
• COVID-19, infection & immunity
• Genetic discovery & methods

Variation in Serum PCSK9 (Proprotein Convertase Subtilisin/Kexin Type 9), Cardiovascular Disease Risk, and an Investigation of Potential Unanticipated Effects of PCSK9 Inhibition

Brumpton B. M., Fritsche L. G., Zheng J., Nielsen J. B., Mannila M., Surakka I., Rasheed H., Vie G. A., Graham S. E., Gabrielsen M. E., Laugsand L. E., Aukrust P., Vatten L. J., Damas J. K., Ueland T., Janszky I., Zwart J. A., Van't Hooft F. M., Seidah N. G., Hveem K., Willer C., Smith G. D., Asvold B. O., Invent Consortium

Circ Genom Precis Med

• Cardiovascular, metabolic & renal health

Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use

Liu M., Jiang Y., Wedow R., Li Y., Brazel D. M., Chen F., Datta G., Davila-Velderrain J., McGuire D., Tian C., Zhan X., andMe Research Team, Hunt All-In Psychiatry, Choquet H., Docherty A. R., Faul J. D., Foerster J. R., Fritsche L. G., Gabrielsen M. E., Gordon S. D., Haessler J., Hottenga J. J., Huang H., Jang S. K., Jansen P. R., Ling Y., Magi R., Matoba N., McMahon G., Mulas A., Orru V., Palviainen T., Pandit A., Reginsson G. W., Skogholt A. H., Smith J. A., Taylor A. E., Turman C., Willemsen G., Young H., Young K. A., Zajac G. J. M., Zhao W., Zhou W., Bjornsdottir G., Boardman J. D., Boehnke M., Boomsma D. I., Chen C., Cucca F., Davies G. E., Eaton C. B., Ehringer M. A., Esko T., Fiorillo E., Gillespie N. A., Gudbjartsson D. F., Haller T., Harris K. M., Heath A. C., Hewitt J. K., Hickie I. B., Hokanson J. E., Hopfer C. J., Hunter D. J., Iacono W. G., Johnson E. O., Kamatani Y., Kardia S. L. R., Keller M. C., Kellis M., Kooperberg C., Kraft P., Krauter K. S., Laakso M., Lind P. A., Loukola A., Lutz S. M., Madden P. A. F., Martin N. G., McGue M., McQueen M. B., Medland S. E., Metspalu A., Mohlke K. L., Nielsen J. B., Okada Y., Peters U., Polderman T. J. C., Posthuma D., Reiner A. P., Rice J. P., Rimm E., Rose R. J., Runarsdottir V., Stallings M. C., Stancakova A., Stefansson H., Thai K. K., Tindle H. A., Tyrfingsson T., Wall T. L., Weir D. R., Weisner C., Whitfield J. B., Winsvold B. S., Yin J., Zuccolo L., Bierut L. J., Hveem K., Lee J. J., Munafo M. R., Saccone N. L., Willer C. J., Cornelis M. C., David S. P., Hinds D. A., Jorgenson E., Kaprio J., Stitzel J. A., Stefansson K., Thorgeirsson T. E., Abecasis G., Liu D. J., Vrieze S.

Nature Genetics

• Genetic discovery & methods

Novel Common Genetic Susceptibility Loci for Colorectal Cancer

Schmit S. L., Edlund C. K., Schumacher F. R., Gong J., Harrison T. A., Huyghe J. R., Qu C., Melas M., Van Den Berg D. J., Wang H., Tring S., Plummer S. J., Albanes D., Alonso M. H., Amos C. I., Anton K., Aragaki A. K., Arndt V., Barry E. L., Berndt S. I., Bezieau S., Bien S., Bloomer A., Boehm J., Boutron-Ruault M. C., Brenner H., Brezina S., Buchanan D. D., Butterbach K., Caan B. J., Campbell P. T., Carlson C. S., Castelao J. E., Chan A. T., Chang-Claude J., Chanock S. J., Cheng I., Cheng Y. W., Chin L. S., Church J. M., Church T., Coetzee G. A., Cotterchio M., Cruz Correa M., Curtis K. R., Duggan D., Easton D. F., English D., Feskens E. J. M., Fischer R., FitzGerald L. M., Fortini B. K., Fritsche L. G., Fuchs C. S., Gago-Dominguez M., Gala M., Gallinger S. J., Gauderman W. J., Giles G. G., Giovannucci E. L., Gogarten S. M., Gonzalez-Villalpando C., Gonzalez-Villalpando E. M., Grady W. M., Greenson J. K., Gsur A., Gunter M., Haiman C. A., Hampe J., Harlid S., Harju J. F., Hayes R. B., Hofer P., Hoffmeister M., Hopper J. L., Huang S. C., Huerta J. M., Hudson T. J., Hunter D. J., Idos G. E., Iwasaki M., Jackson R. D., Jacobs E. J., Jee S. H., Jenkins M. A., Jia W. H., Jiao S., Joshi A. D., Kolonel L. N., Kono S., Kooperberg C., Krogh V., Kuehn T., Kury S., LaCroix A., Laurie C. A., Lejbkowicz F., Lemire M., Lenz H. J., Levine D., Li C. I., Li L., Lieb W., Lin Y., Lindor N. M., Liu Y. R., Loupakis F., Lu Y., Luh F., Ma J., Mancao C., Manion F. J., Markowitz S. D., Martin V., Matsuda K., Matsuo K., McDonnell K. J., McNeil C. E., Milne R., Molina A. J., Mukherjee B., Murphy N., Newcomb P. A., Offit K., Omichessan H., Palli D., Cotore J. P. P., Perez-Mayoral J., Pharoah P. D., Potter J. D., Qu C., Raskin L., Rennert G., Rennert H. S., Riggs B. M., Schafmayer C., Schoen R. E., Sellers T. A., Seminara D., Severi G., Shi W., Shibata D., Shu X. O., Siegel E. M., Slattery M. L., Southey M., Stadler Z. K., Stern M. C., Stintzing S., Taverna D., Thibodeau S. N., Thomas D. C., Trichopoulou A., Tsugane S., Ulrich C. M., van Duijnhoven F. J. B., van Guelpan B., Vijai J., Virtamo J., Weinstein S. J., White E., Win A. K., Wolk A., Woods M., Wu A. H., Wu K., Xiang Y. B., Yen Y., Zanke B. W., Zeng Y. X., Zhang B., Zubair N., Kweon S. S., Figueiredo J. C., Zheng W., Marchand L. L., Lindblom A., Moreno V., Peters U., Casey G., Hsu L., Conti D. V., Gruber S. B.

J Natl Cancer Inst

• Cancer & immunotherapy
• Genetic discovery & methods

Biological and clinical insights from genetics of insomnia symptoms

Lane J. M., Jones S. E., Dashti H. S., Wood A. R., Aragam K. G., van Hees V. T., Strand L. B., Winsvold B. S., Wang H., Bowden J., Song Y., Patel K., Anderson S. G., Beaumont R. N., Bechtold D. A., Cade B. E., Haas M., Kathiresan S., Little M. A., Luik A. I., Loudon A. S., Purcell S., Richmond R. C., Scheer F. A. J. L., Schormair B., Tyrrell J., Winkelman J. W., Winkelmann J., HUNT All In Sleep, Hveem K., Zhao C., Nielsen J. B., Willer C. J., Redline S., Spiegelhalder K., Kyle S. D., Ray D. W., Zwart J. A., Brumpton B., Frayling T. M., Lawlor D. A., Rutter M. K., Weedon M. N., Saxena R.

Consortium credit: Lars Fritsche, HUNT All In Sleep. Authorship record

Nature Genetics

• Neurologic & mental health
• Biobanks & population cohorts
• Genetic discovery & methods

Biobank-driven genomic discovery yields new insight into atrial fibrillation biology

Nielsen J. B., Thorolfsdottir R. B., Fritsche L. G., Zhou W., Skov M. W., Graham S. E., Herron T. J., McCarthy S., Schmidt E. M., Sveinbjornsson G., Surakka I., Mathis M. R., Yamazaki M., Crawford R. D., Gabrielsen M. E., Skogholt A. H., Holmen O. L., Lin M., Wolford B. N., Dey R., Dalen H., Sulem P., Chung J. H., Backman J. D., Arnar D. O., Thorsteinsdottir U., Baras A., O'Dushlaine C., Holst A. G., Wen X., Hornsby W., Dewey F. E., Boehnke M., Kheterpal S., Mukherjee B., Lee S., Kang H. M., Holm H., Kitzman J., Shavit J. A., Jalife J., Brummett C. M., Teslovich T. M., Carey D. J., Gudbjartsson D. F., Stefansson K., Abecasis G. R., Hveem K., Willer C. J.

Nature Genetics

• Biobanks & population cohorts
• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Association of Polygenic Risk Scores for Multiple Cancers in a Phenome-wide Study: Results from The Michigan Genomics Initiative

Fritsche L. G., Gruber S. B., Wu Z., Schmidt E. M., Zawistowski M., Moser S. E., Blanc V. M., Brummett C. M., Kheterpal S., Abecasis G. R., Mukherjee B.

American Journal of Human Genetics

• Biobanks & population cohorts
• Cancer & immunotherapy
• EHR & computational phenotyping
• Polygenic risk & prediction

Genome-wide Study of Atrial Fibrillation Identifies Seven Risk Loci and Highlights Biological Pathways and Regulatory Elements Involved in Cardiac Development

Nielsen J. B., Fritsche L. G., Zhou W., Teslovich T. M., Holmen O. L., Gustafsson S., Gabrielsen M. E., Schmidt E. M., Beaumont R., Wolford B. N., Lin M., Brummett C. M., Preuss M. H., Refsgaard L., Bottinger E. P., Graham S. E., Surakka I., Chu Y., Skogholt A. H., Dalen H., Boyle A. P., Oral H., Herron T. J., Kitzman J., Jalife J., Svendsen J. H., Olesen M. S., Njolstad I., Lochen M. L., Baras A., Gottesman O., Marcketta A., O'Dushlaine C., Ritchie M. D., Wilsgaard T., Loos R. J. F., Frayling T. M., Boehnke M., Ingelsson E., Carey D. J., Dewey F. E., Kang H. M., Abecasis G. R., Hveem K., Willer C. J.

American Journal of Human Genetics

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

First Genome-Wide Association Study of Latent Autoimmune Diabetes in Adults Reveals Novel Insights Linking Immune and Metabolic Diabetes

Cousminer D. L., Ahlqvist E., Mishra R., Andersen M. K., Chesi A., Hawa M. I., Davis A., Hodge K. M., Bradfield J. P., Zhou K., Guy V. C., Akerlund M., Wod M., Fritsche L. G., Vestergaard H., Snyder J., Hojlund K., Linneberg A., Karajamaki A., Brandslund I., Kim C. E., Witte D., Sorgjerd E. P., Brillon D. J., Pedersen O., Beck-Nielsen H., Grarup N., Pratley R. E., Rickels M. R., Vella A., Ovalle F., Melander O., Harris R. I., Varvel S., Grill V. E. R., Bone Mineral Density in Childhood Study, Hakonarson H., Froguel P., Lonsdale J. T., Mauricio D., Schloot N. C., Khunti K., Greenbaum C. J., Asvold B. O., Yderstraede K. B., Pearson E. R., Schwartz S., Voight B. F., Hansen T., Tuomi T., Boehm B. O., Groop L., Leslie R. D., Grant S. F. A.

Diabetes Care

• Cardiovascular, metabolic & renal health
• COVID-19, infection & immunity
• Genetic discovery & methods

Efficiently controlling for case-control imbalance and sample relatedness in large-scale genetic association studies

Zhou W., Nielsen J. B., Fritsche L. G., Dey R., Gabrielsen M. E., Wolford B. N., LeFaive J., VandeHaar P., Gagliano S. A., Gifford A., Bastarache L. A., Wei W. Q., Denny J. C., Lin M., Hveem K., Kang H. M., Abecasis G. R., Willer C. J., Lee S.

Nature Genetics

• Genetic discovery & methods

Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes

Gusarova V., O'Dushlaine C., Teslovich T. M., Benotti P. N., Mirshahi T., Gottesman O., Van Hout C. V., Murray M. F., Mahajan A., Nielsen J. B., Fritsche L., Wulff A. B., Gudbjartsson D. F., Sjogren M., Emdin C. A., Scott R. A., Lee W. J., Small A., Kwee L. C., Dwivedi O. P., Prasad R. B., Bruse S., Lopez A. E., Penn J., Marcketta A., Leader J. B., Still C. D., Kirchner H. L., Mirshahi U. L., Wardeh A. H., Hartle C. M., Habegger L., Fetterolf S. N., Tusie-Luna T., Morris A. P., Holm H., Steinthorsdottir V., Sulem P., Thorsteinsdottir U., Rotter J. I., Chuang L. M., Damrauer S., Birtwell D., Brummett C. M., Khera A. V., Natarajan P., Orho-Melander M., Flannick J., Lotta L. A., Willer C. J., Holmen O. L., Ritchie M. D., Ledbetter D. H., Murphy A. J., Borecki I. B., Reid J. G., Overton J. D., Hansson O., Groop L., Shah S. H., Kraus W. E., Rader D. J., Chen Y. I., Hveem K., Wareham N. J., Kathiresan S., Melander O., Stefansson K., Nordestgaard B. G., Tybjaerg-Hansen A., Abecasis G. R., Altshuler D., Florez J. C., Boehnke M., McCarthy M. I., Yancopoulos G. D., Carey D. J., Shuldiner A. R., Baras A., Dewey F. E., Gromada J.

Nature Communications

• Cardiovascular, metabolic & renal health

Association of Genetic Variants With Response to Anti-Vascular Endothelial Growth Factor Therapy in Age-Related Macular Degeneration

Lores-Motta L., Riaz M., Grunin M., Corominas J., van Asten F., Pauper M., Leenders M., Richardson A. J., Muether P., Cree A. J., Griffiths H. L., Pham C., Belanger M. C., Meester-Smoor M. A., Ali M., Heid I. M., Fritsche L. G., Chakravarthy U., Gale R., McKibbin M., Inglehearn C. F., Schlingemann R. O., Omar A., Chen J., Koenekoop R. K., Fauser S., Guymer R. H., Hoyng C. B., de Jong E. K., Lotery A. J., Mitchell P., den Hollander A. I., Baird P. N., Chowers I.

JAMA Ophthalmol

• Clinical translation & treatment response
• Eye disease & retinal imaging
• Genetic discovery & methods

Genome-wide analysis yields new loci associating with aortic valve stenosis

Helgadottir A., Thorleifsson G., Gretarsdottir S., Stefansson O. A., Tragante V., Thorolfsdottir R. B., Jonsdottir I., Bjornsson T., Steinthorsdottir V., Verweij N., Nielsen J. B., Zhou W., Folkersen L., Martinsson A., Heydarpour M., Prakash S., Oskarsson G., Gudbjartsson T., Geirsson A., Olafsson I., Sigurdsson E. L., Almgren P., Melander O., Franco-Cereceda A., Hamsten A., Fritsche L., Lin M., Yang B., Hornsby W., Guo D., Brummett C. M., Abecasis G., Mathis M., Milewicz D., Body S. C., Eriksson P., Willer C. J., Hveem K., Newton-Cheh C., Smith J. G., Danielsen R., Thorgeirsson G., Thorsteinsdottir U., Gudbjartsson D. F., Holm H., Stefansson K.

Nature Communications

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Geographic distribution of rare variants associated with age-related macular degeneration

Geerlings M. J., Kersten E., Groenewoud J. M. M., Fritsche L. G., Hoyng C. B., de Jong E. K., den Hollander A. I.

Mol Vis

• Ancestry, diversity & disparities
• Eye disease & retinal imaging
• Genetic discovery & methods

Genome-wide analysis of disease progression in age-related macular degeneration

Yan Q., Ding Y., Liu Y., Sun T., Fritsche L. G., Clemons T., Ratnapriya R., Klein M. L., Cook R. J., Liu Y., Fan R., Wei L., Abecasis G. R., Swaroop A., Chew E. Y., Areds Research Group, Weeks D. E., Chen W.

Human Molecular Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

Exome-wide association study of plasma lipids in >300,000 individuals

Liu D. J., Peloso G. M., Yu H., Butterworth A. S., Wang X., Mahajan A., Saleheen D., Emdin C., Alam D., Alves A. C., Amouyel P., Di Angelantonio E., Arveiler D., Assimes T. L., Auer P. L., Baber U., Ballantyne C. M., Bang L. E., Benn M., Bis J. C., Boehnke M., Boerwinkle E., Bork-Jensen J., Bottinger E. P., Brandslund I., Brown M., Busonero F., Caulfield M. J., Chambers J. C., Chasman D. I., Chen Y. E., Chen Y. I., Chowdhury R., Christensen C., Chu A. Y., Connell J. M., Cucca F., Cupples L. A., Damrauer S. M., Davies G., Deary I. J., Dedoussis G., Denny J. C., Dominiczak A., Dube M. P., Ebeling T., Eiriksdottir G., Esko T., Farmaki A. E., Feitosa M. F., Ferrario M., Ferrieres J., Ford I., Fornage M., Franks P. W., Frayling T. M., Frikke-Schmidt R., Fritsche L. G., Frossard P., Fuster V., Ganesh S. K., Gao W., Garcia M. E., Gieger C., Giulianini F., Goodarzi M. O., Grallert H., Grarup N., Groop L., Grove M. L., Gudnason V., Hansen T., Harris T. B., Hayward C., Hirschhorn J. N., Holmen O. L., Huffman J., Huo Y., Hveem K., Jabeen S., Jackson A. U., Jakobsdottir J., Jarvelin M. R., Jensen G. B., Jorgensen M. E., Jukema J. W., Justesen J. M., Kamstrup P. R., Kanoni S., Karpe F., Kee F., Khera A. V., Klarin D., Koistinen H. A., Kooner J. S., Kooperberg C., Kuulasmaa K., Kuusisto J., Laakso M., Lakka T., Langenberg C., Langsted A., Launer L. J., Lauritzen T., Liewald D. C. M., Lin L. A., Linneberg A., Loos R. J. F., Lu Y., Lu X., Magi R., Malarstig A., Manichaikul A., Manning A. K., Mantyselka P., Marouli E., Masca N. G. D., Maschio A., Meigs J. B., Melander O., Metspalu A., Morris A. P., Morrison A. C., Mulas A., Muller-Nurasyid M., Munroe P. B., Neville M. J., Nielsen J. B., Nielsen S. F., Nordestgaard B. G., Ordovas J. M., Mehran R., O'Donnell C. J., Orho-Melander M., Molony C. M., Muntendam P., Padmanabhan S., Palmer C. N. A., Pasko D., Patel A. P., Pedersen O., Perola M., Peters A., Pisinger C., Pistis G., Polasek O., Poulter N., Psaty B. M., Rader D. J., Rasheed A., Rauramaa R., Reilly D. F., Reiner A. P., Renstrom F., Rich S. S., Ridker P. M., Rioux J. D., Robertson N. R., Roden D. M., Rotter J. I., Rudan I., Salomaa V., Samani N. J., Sanna S., Sattar N., Schmidt E. M., Scott R. A., Sever P., Sevilla R. S., Shaffer C. M., Sim X., Sivapalaratnam S., Small K. S., Smith A. V., Smith B. H., Somayajula S., Southam L., Spector T. D., Speliotes E. K., Starr J. M., Stirrups K. E., Stitziel N., Strauch K., Stringham H. M., Surendran P., Tada H., Tall A. R., Tang H., Tardif J. C., Taylor K. D., Trompet S., Tsao P. S., Tuomilehto J., Tybjaerg-Hansen A., van Zuydam N. R., Varbo A., Varga T. V., Virtamo J., Waldenberger M., Wang N., Wareham N. J., Warren H. R., Weeke P. E., Weinstock J., Wessel J., Wilson J. G., Wilson P. W. F., Xu M., Yaghootkar H., Young R., Zeggini E., Zhang H., Zheng N. S., Zhang W., Zhang Y., Zhou W., Zhou Y., Zoledziewska M., Charge Diabetes Working Group, E. PIC-InterAct Consortium, Epic-Cvd Consortium, Gold Consortium, V. A. Million Veteran Program, Howson J. M. M., Danesh J., McCarthy M. I., Cowan C. A., Abecasis G., Deloukas P., Musunuru K., Willer C. J., Kathiresan S.

Nature Genetics

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Exome chip meta-analysis identifies novel loci and East Asian-specific coding variants that contribute to lipid levels and coronary artery disease

Lu X., Peloso G. M., Liu D. J., Wu Y., Zhang H., Zhou W., Li J., Tang C. S., Dorajoo R., Li H., Long J., Guo X., Xu M., Spracklen C. N., Chen Y., Liu X., Zhang Y., Khor C. C., Liu J., Sun L., Wang L., Gao Y. T., Hu Y., Yu K., Wang Y., Cheung C. Y. Y., Wang F., Huang J., Fan Q., Cai Q., Chen S., Shi J., Yang X., Zhao W., Sheu W. H., Cherny S. S., He M., Feranil A. B., Adair L. S., Gordon-Larsen P., Du S., Varma R., Chen Y. I., Shu X. O., Lam K. S. L., Wong T. Y., Ganesh S. K., Mo Z., Hveem K., Fritsche L. G., Nielsen J. B., Tse H. F., Huo Y., Cheng C. Y., Chen Y. E., Zheng W., Tai E. S., Gao W., Lin X., Huang W., Abecasis G., Glgc Consortium, Kathiresan S., Mohlke K. L., Wu T., Sham P. C., Gu D., Willer C. J.

Nature Genetics

• Ancestry, diversity & disparities
• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Shared genetic origin of asthma, hay fever and eczema elucidates allergic disease biology

Ferreira M. A., Vonk J. M., Baurecht H., Marenholz I., Tian C., Hoffman J. D., Helmer Q., Tillander A., Ullemar V., van Dongen J., Lu Y., Ruschendorf F., Esparza-Gordillo J., Medway C. W., Mountjoy E., Burrows K., Hummel O., Grosche S., Brumpton B. M., Witte J. S., Hottenga J. J., Willemsen G., Zheng J., Rodriguez E., Hotze M., Franke A., Revez J. A., Beesley J., Matheson M. C., Dharmage S. C., Bain L. M., Fritsche L. G., Gabrielsen M. E., Balliu B., andMe Research Team, Aagc collaborators, Bios consortium, LifeLines Cohort Study, Nielsen J. B., Zhou W., Hveem K., Langhammer A., Holmen O. L., Loset M., Abecasis G. R., Willer C. J., Arnold A., Homuth G., Schmidt C. O., Thompson P. J., Martin N. G., Duffy D. L., Novak N., Schulz H., Karrasch S., Gieger C., Strauch K., Melles R. B., Hinds D. A., Hubner N., Weidinger S., Magnusson P. K. E., Jansen R., Jorgenson E., Lee Y. A., Boomsma D. I., Almqvist C., Karlsson R., Koppelman G. H., Paternoster L.

Nature Genetics

• COVID-19, infection & immunity
• Genetic discovery & methods

HDL-cholesterol levels and risk of age-related macular degeneration: a multiethnic genetic study using Mendelian randomization

Fan Q., Maranville J. C., Fritsche L., Sim X., Cheung C. M. G., Chen L. J., Gorski M., Yamashiro K., Ahn J., Laude A., Dorajoo R., Lim T. H., Teo Y. Y., Blaustein R. O., Yoshimura N., Park K. H., Pang C. P., Tai E. S., Khor C. C., Wong T. Y., Runz H., Cheng C. Y.

Int J Epidemiol

• Ancestry, diversity & disparities
• Cardiovascular, metabolic & renal health
• Eye disease & retinal imaging
• Genetic discovery & methods

Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels

Zhou W., Fritsche L. G., Das S., Zhang H., Nielsen J. B., Holmen O. L., Chen J., Lin M., Elvestad M. B., Hveem K., Abecasis G. R., Kang H. M., Willer C. J.

Genet Epidemiol

• Genetic discovery & methods

A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies

Yang J., Fritsche L. G., Zhou X., Abecasis G., International Age-Related Macular Degeneration Genomics Consortium

American Journal of Human Genetics

• Genetic discovery & methods

Protein-altering and regulatory genetic variants near GATA4 implicated in bicuspid aortic valve

Yang B., Zhou W., Jiao J., Nielsen J. B., Mathis M. R., Heydarpour M., Lettre G., Folkersen L., Prakash S., Schurmann C., Fritsche L., Farnum G. A., Lin M., Othman M., Hornsby W., Driscoll A., Levasseur A., Thomas M., Farhat L., Dube M. P., Isselbacher E. M., Franco-Cereceda A., Guo D. C., Bottinger E. P., Deeb G. M., Booher A., Kheterpal S., Chen Y. E., Kang H. M., Kitzman J., Cordell H. J., Keavney B. D., Goodship J. A., Ganesh S. K., Abecasis G., Eagle K. A., Boyle A. P., Loos R. J. F., Eriksson P., Tardif J. C., Brummett C. M., Milewicz D. M., Body S. C., Willer C. J.

Nature Communications

• Cardiovascular, metabolic & renal health
• Genetic discovery & methods

Bivariate Analysis of Age-Related Macular Degeneration Progression Using Genetic Risk Scores

Ding Y., Liu Y., Yan Q., Fritsche L. G., Cook R. J., Clemons T., Ratnapriya R., Klein M. L., Abecasis G. R., Swaroop A., Chew E. Y., Weeks D. E., Chen W., Areds Research Group

Genetics

• Eye disease & retinal imaging
• Polygenic risk & prediction
• Genetic discovery & methods

In Silico Functional Meta-Analysis of 5,962 ABCA4 Variants in 3,928 Retinal Dystrophy Cases

Cornelis S. S., Bax N. M., Zernant J., Allikmets R., Fritsche L. G., den Dunnen J. T., Ajmal M., Hoyng C. B., Cremers F. P.

Human Mutation

• Eye disease & retinal imaging
• Genetic discovery & methods

Genetic pleiotropy between age-related macular degeneration and 16 complex diseases and traits

Grassmann F., Kiel C., Zimmermann M. E., Gorski M., Grassmann V., Stark K., International AMD Genomics Consortium (IAMDGC), Heid I. M., Weber B. H.

Consortium credit: Lars G. Fritsche, International AMD Genomics Consortium (IAMDGC). Authorship record

Genome Medicine

• Eye disease & retinal imaging
• Polygenic risk & prediction
• Genetic discovery & methods
• Cardiovascular, metabolic & renal health
• COVID-19, infection & immunity

A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants

Fritsche L. G., Igl W., Bailey J. N., Grassmann F., Sengupta S., Bragg-Gresham J. L., Burdon K. P., Hebbring S. J., Wen C., Gorski M., Kim I. K., Cho D., Zack D., Souied E., Scholl H. P., Bala E., Lee K. E., Hunter D. J., Sardell R. J., Mitchell P., Merriam J. E., Cipriani V., Hoffman J. D., Schick T., Lechanteur Y. T., Guymer R. H., Johnson M. P., Jiang Y., Stanton C. M., Buitendijk G. H., Zhan X., Kwong A. M., Boleda A., Brooks M., Gieser L., Ratnapriya R., Branham K. E., Foerster J. R., Heckenlively J. R., Othman M. I., Vote B. J., Liang H. H., Souzeau E., McAllister I. L., Isaacs T., Hall J., Lake S., Mackey D. A., Constable I. J., Craig J. E., Kitchner T. E., Yang Z., Su Z., Luo H., Chen D., Ouyang H., Flagg K., Lin D., Mao G., Ferreyra H., Stark K., von Strachwitz C. N., Wolf A., Brandl C., Rudolph G., Olden M., Morrison M. A., Morgan D. J., Schu M., Ahn J., Silvestri G., Tsironi E. E., Park K. H., Farrer L. A., Orlin A., Brucker A., Li M., Curcio C. A., Mohand-Said S., Sahel J. A., Audo I., Benchaboune M., Cree A. J., Rennie C. A., Goverdhan S. V., Grunin M., Hagbi-Levi S., Campochiaro P., Katsanis N., Holz F. G., Blond F., Blanche H., Deleuze J. F., Igo R. P. Jr., Truitt B., Peachey N. S., Meuer S. M., Myers C. E., Moore E. L., Klein R., Hauser M. A., Postel E. A., Courtenay M. D., Schwartz S. G., Kovach J. L., Scott W. K., Liew G., Tan A. G., Gopinath B., Merriam J. C., Smith R. T., Khan J. C., Shahid H., Moore A. T., McGrath J. A., Laux R., Brantley M. A. Jr., Agarwal A., Ersoy L., Caramoy A., Langmann T., Saksens N. T., de Jong E. K., Hoyng C. B., Cain M. S., Richardson A. J., Martin T. M., Blangero J., Weeks D. E., Dhillon B., van Duijn C. M., Doheny K. F., Romm J., Klaver C. C., Hayward C., Gorin M. B., Klein M. L., Baird P. N., den Hollander A. I., Fauser S., Yates J. R., Allikmets R., Wang J. J., Schaumberg D. A., Klein B. E., Hagstrom S. A., Chowers I., Lotery A. J., Leveillard T., Zhang K., Brilliant M. H., Hewitt A. W., Swaroop A., Chew E. Y., Pericak-Vance M. A., DeAngelis M., Stambolian D., Haines J. L., Iyengar S. K., Weber B. H., Abecasis G. R., Heid I. M.

Nature Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

A global reference for human genetic variation

Genomes Project Consortium, Auton A., Brooks L. D., Durbin R. M., Garrison E. P., Kang H. M., Korbel J. O., Marchini J. L., McCarthy S., McVean G. A., Abecasis G. R.

Consortium credit: Lars Fritsche, 1000 Genomes Project Consortium. Authorship record

Nature

• Ancestry, diversity & disparities
• Genetic discovery & methods

Meta-analysis of genome-wide association studies: A practical guide

Chen W., Liu D., Fritsche L.

Integrating omics data

• Genetic discovery & methods

Age-related macular degeneration: genetics and biology coming together

Fritsche L. G., Fariss R. N., Stambolian D., Abecasis G. R., Curcio C. A., Swaroop A.

Annual Review of Genomics and Human Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

No clinically significant association between CFH and ARMS2 genotypes and response to nutritional supplements: AREDS report number 38

Chew E. Y., Klein M. L., Clemons T. E., Agron E., Ratnapriya R., Edwards A. O., Fritsche L. G., Swaroop A., Abecasis G. R., Age-Related Eye Disease Study Research Group

Ophthalmology

• Clinical translation & treatment response
• Eye disease & retinal imaging

Expanding the spectrum of PTH1R mutations in patients with primary failure of tooth eruption

Roth H., Fritsche L. G., Meier C., Pilz P., Eigenthaler M., Meyer-Marcotty P., Stellzig-Eisenhauer A., Proff P., Kanno C. M., Weber B. H.

Clin Oral Investig

• Pain, bone & musculoskeletal health

Genotype imputation in genome-wide association studies

Porcu E., Sanna S., Fuchsberger C., Fritsche L. G.

Current Protocols in Human Genetics

• Genetic discovery & methods

Seven new loci associated with age-related macular degeneration

Fritsche L. G., Chen W., Schu M., Yaspan B. L., Yu Y., Thorleifsson G., Zack D. J., Arakawa S., Cipriani V., Ripke S., Igo R. P. Jr., Buitendijk G. H., Sim X., Weeks D. E., Guymer R. H., Merriam J. E., Francis P. J., Hannum G., Agarwal A., Armbrecht A. M., Audo I., Aung T., Barile G. R., Benchaboune M., Bird A. C., Bishop P. N., Branham K. E., Brooks M., Brucker A. J., Cade W. H., Cain M. S., Campochiaro P. A., Chan C. C., Cheng C. Y., Chew E. Y., Chin K. A., Chowers I., Clayton D. G., Cojocaru R., Conley Y. P., Cornes B. K., Daly M. J., Dhillon B., Edwards A. O., Evangelou E., Fagerness J., Ferreyra H. A., Friedman J. S., Geirsdottir A., George R. J., Gieger C., Gupta N., Hagstrom S. A., Harding S. P., Haritoglou C., Heckenlively J. R., Holz F. G., Hughes G., Ioannidis J. P., Ishibashi T., Joseph P., Jun G., Kamatani Y., Katsanis N., N. Keilhauer C, Khan J. C., Kim I. K., Kiyohara Y., Klein B. E., Klein R., Kovach J. L., Kozak I., Lee C. J., Lee K. E., Lichtner P., Lotery A. J., Meitinger T., Mitchell P., Mohand-Said S., Moore A. T., Morgan D. J., Morrison M. A., Myers C. E., Naj A. C., Nakamura Y., Okada Y., Orlin A., Ortube M. C., Othman M. I., Pappas C., Park K. H., Pauer G. J., Peachey N. S., Poch O., Priya R. R., Reynolds R., Richardson A. J., Ripp R., Rudolph G., Ryu E., Sahel J. A., Schaumberg D. A., Scholl H. P., Schwartz S. G., Scott W. K., Shahid H., Sigurdsson H., Silvestri G., Sivakumaran T. A., Smith R. T., Sobrin L., Souied E. H., Stambolian D. E., Stefansson H., Sturgill-Short G. M., Takahashi A., Tosakulwong N., Truitt B. J., Tsironi E. E., Uitterlinden A. G., van Duijn C. M., Vijaya L., Vingerling J. R., Vithana E. N., Webster A. R., Wichmann H. E., Winkler T. W., Wong T. Y., Wright A. F., Zelenika D., Zhang M., Zhao L., Zhang K., Klein M. L., Hageman G. S., Lathrop G. M., Stefansson K., Allikmets R., Baird P. N., Gorin M. B., Wang J. J., Klaver C. C., Seddon J. M., Pericak-Vance M. A., Iyengar S. K., Yates J. R., Swaroop A., Weber B. H., Kubo M., Deangelis M. M., Leveillard T., Thorsteinsdottir U., Haines J. L., Farrer L. A., Heid I. M., Abecasis G. R., A. M. D. Gene Consortium

Nature Genetics

• Eye disease & retinal imaging
• Genetic discovery & methods

Age-related macular degeneration and coronary heart disease: evaluation of genetic and environmental associations

Keilhauer C. N., Fritsche L. G., Guthoff R., Haubitz I., Weber B. H.

Eur J Med Genet

• Cardiovascular, metabolic & renal health
• Eye disease & retinal imaging

Genetics

Fritsche L. G., Friedrich U., Weber B. H. F.

Age-related macular degeneration

• Eye disease & retinal imaging
• Genetic discovery & methods

A subgroup of age-related macular degeneration is associated with mono-allelic sequence variants in the ABCA4 gene

Fritsche L. G., Fleckenstein M., Fiebig B. S., Schmitz-Valckenberg S., Bindewald-Wittich A., Keilhauer C. N., Renner A. B., Mackensen F., Mossner A., Pauleikhoff D., Adrion C., Mansmann U., Scholl H. P., Holz F. G., Weber B. H.

Investigative Ophthalmology & Visual Science

• Eye disease & retinal imaging

Modelling the genetic risk in age-related macular degeneration

Grassmann F., Fritsche L. G., Keilhauer C. N., Heid I. M., Weber B. H.

PLOS ONE

• Eye disease & retinal imaging
• Polygenic risk & prediction
• Genetic discovery & methods

Multicenter cohort association study of SLC2A1 single nucleotide polymorphisms and age-related macular degeneration

Baas D. C., Ho L., Tanck M. W., Fritsche L. G., Merriam J. E., van het Slot R., Koeleman B. P., Gorgels T. G., van Duijn C. M., Uitterlinden A. G., de Jong P. T., Hofman A., ten Brink J. B., Vingerling J. R., Klaver C. C., Dean M., Weber B. H., Allikmets R., Hageman G. S., Bergen A. A.

Mol Vis

• Eye disease & retinal imaging
• Genetic discovery & methods

Complement factor H genetic variant and age-related macular degeneration: effect size, modifiers and relationship to disease subtype

Sofat R., Casas J. P., Webster A. R., Bird A. C., Mann S. S., Yates J. R., Moore A. T., Sepp T., Cipriani V., Bunce C., Khan J. C., Shahid H., Swaroop A., Abecasis G., Branham K. E., Zareparsi S., Bergen A. A., Klaver C. C., Baas D. C., Zhang K., Chen Y., Gibbs D., Weber B. H., Keilhauer C. N., Fritsche L. G., Lotery A., Cree A. J., Griffiths H. L., Bhattacharya S. S., Chen L. L., Jenkins S. A., Peto T., Lathrop M., Leveillard T., Gorin M. B., Weeks D. E., Ortube M. C., Ferrell R. E., Jakobsdottir J., Conley Y. P., Rahu M., Seland J. H., Soubrane G., Topouzis F., Vioque J., Tomazzoli L., Young I., Whittaker J., Chakravarthy U., de Jong P. T., Smeeth L., Fletcher A., Hingorani A. D.

Int J Epidemiol

• Eye disease & retinal imaging
• Genetic discovery & methods

Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies

McKay G. J., Patterson C. C., Chakravarthy U., Dasari S., Klaver C. C., Vingerling J. R., Ho L., de Jong P. T., Fletcher A. E., Young I. S., Seland J. H., Rahu M., Soubrane G., Tomazzoli L., Topouzis F., Vioque J., Hingorani A. D., Sofat R., Dean M., Sawitzke J., Seddon J. M., Peter I., Webster A. R., Moore A. T., Yates J. R., Cipriani V., Fritsche L. G., Weber B. H., Keilhauer C. N., Lotery A. J., Ennis S., Klein M. L., Francis P. J., Stambolian D., Orlin A., Gorin M. B., Weeks D. E., Kuo C. L., Swaroop A., Othman M., Kanda A., Chen W., Abecasis G. R., Wright A. F., Hayward C., Baird P. N., Guymer R. H., Attia J., Thakkinstian A., Silvestri G.

Human Mutation

• Eye disease & retinal imaging

Age-related macular degeneration with discordant late stage phenotypes in monozygotic twins

Keilhauer C. N., Fritsche L. G., Weber B. H.

Ophthalmic Genet

• Eye disease & retinal imaging

Variations in apolipoprotein E frequency with age in a pooled analysis of a large group of older people

McKay G. J., Silvestri G., Chakravarthy U., Dasari S., Fritsche L. G., Weber B. H., Keilhauer C. N., Klein M. L., Francis P. J., Klaver C. C., Vingerling J. R., Ho L., De Jong P. T., Dean M., Sawitzke J., Baird P. N., Guymer R. H., Stambolian D., Orlin A., Seddon J. M., Peter I., Wright A. F., Hayward C., Lotery A. J., Ennis S., Gorin M. B., Weeks D. E., Kuo C. L., Hingorani A. D., Sofat R., Cipriani V., Swaroop A., Othman M., Kanda A., Chen W., Abecasis G. R., Yates J. R., Webster A. R., Moore A. T., Seland J. H., Rahu M., Soubrane G., Tomazzoli L., Topouzis F., Vioque J., Young I. S., Fletcher A. E., Patterson C. C.

Am J Epidemiol

• Genetic discovery & methods

Risk- and non-risk-associated variants at the 10q26 AMD locus influence ARMS2 mRNA expression but exclude pathogenic effects due to protein deficiency

Friedrich U., Myers C. A., Fritsche L. G., Milenkovich A., Wolf A., Corbo J. C., Weber B. H.

Human Molecular Genetics

• Eye disease & retinal imaging

An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD)

Fritsche L. G., Lauer N., Hartmann A., Stippa S., Keilhauer C. N., Oppermann M., Pandey M. K., Kohl J., Zipfel P. F., Weber B. H., Skerka C.

Human Molecular Genetics

• Eye disease & retinal imaging
• COVID-19, infection & immunity

CRX ChIP-seq reveals the cis-regulatory architecture of mouse photoreceptors

Corbo J. C., Lawrence K. A., Karlstetter M., Myers C. A., Abdelaziz M., Dirkes W., Weigelt K., Seifert M., Benes V., Fritsche L. G., Weber B. H., Langmann T.

Genome Res

• Eye disease & retinal imaging

Age-related macular degeneration and functional promoter and coding variants of the apolipoprotein E gene

Fritsche L. G., Freitag-Wolf S., Bettecken T., Meitinger T., Keilhauer C. N., Krawczak M., Weber B. H.

Human Mutation

• Eye disease & retinal imaging

CFH, C3 and ARMS2 are significant risk loci for susceptibility but not for disease progression of geographic atrophy due to AMD

Scholl H. P., Fleckenstein M., Fritsche L. G., Schmitz-Valckenberg S., Gobel A., Adrion C., Herold C., Keilhauer C. N., Mackensen F., Mossner A., Pauleikhoff D., Weinberger A. W., Mansmann U., Holz F. G., Becker T., Weber B. H.

PLOS ONE

• Eye disease & retinal imaging
• Genetic discovery & methods

The SERPING1 gene and age-related macular degeneration

Allikmets R., Dean M., Hageman G. S., Baird P. N., Klaver C. C., Bergen A. A., Weber B. H., International A. M. D. Genetics Consortium

Consortium credit: Lars G. Fritsche, International AMD Genetics Consortium. Authorship record

Lancet

• Eye disease & retinal imaging

Age-related macular degeneration is associated with an unstable ARMS2 (LOC387715) mRNA

Fritsche L. G., Loenhardt T., Janssen A., Fisher S. A., Rivera A., Keilhauer C. N., Weber B. H.

Nature Genetics

• Eye disease & retinal imaging

Systemic complement activation in age-related macular degeneration

Scholl H. P., Charbel Issa P., Walier M., Janzer S., Pollok-Kopp B., Borncke F., Fritsche L. G., Chong N. V., Fimmers R., Wienker T., Holz F. G., Weber B. H., Oppermann M.

PLOS ONE

• Eye disease & retinal imaging
• COVID-19, infection & immunity

Defective complement control of factor H (Y402H) and FHL-1 in age-related macular degeneration

Skerka C., Lauer N., Weinberger A. A., Keilhauer C. N., Suhnel J., Smith R., Schlotzer-Schrehardt U., Fritsche L., Heinen S., Hartmann A., Weber B. H., Zipfel P. F.

Mol Immunol

• Eye disease & retinal imaging
• COVID-19, infection & immunity

Case-control genetic association study of fibulin-6 (FBLN6 or HMCN1) variants in age-related macular degeneration (AMD)

Fisher S. A., Rivera A., Fritsche L. G., Keilhauer C. N., Lichtner P., Meitinger T., Rudolph G., Weber B. H.

Human Mutation

• Eye disease & retinal imaging
• Genetic discovery & methods

Assessment of the contribution of CFH and chromosome 10q26 AMD susceptibility loci in a Russian population isolate

Fisher S. A., Rivera A., Fritsche L. G., Babadjanova G., Petrov S., Weber B. H.

Br J Ophthalmol

• Ancestry, diversity & disparities
• Eye disease & retinal imaging
• Genetic discovery & methods

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk

Rivera A., Fisher S. A., Fritsche L. G., Keilhauer C. N., Lichtner P., Meitinger T., Weber B. H.

Human Molecular Genetics

• Eye disease & retinal imaging