ArticleCell genomics2024
MUSSEL: Enhanced Bayesian polygenic risk prediction leveraging information across multiple ancestry groups.
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Article in Cell genomics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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29 citing papers in PubMed, 24 citations in OpenAlex.
- Evidence standards for multi-ancestry polygenic prediction.Genome biology · 2026Review
- DiscoDivas: Leveraging genetic-ancestry continuum information to interpolate PRS for admixed populations.American journal of human genetics · 2026Article
- MIXPRS enables multi-population and multi-method polygenic risk scores using summary statistics.Nature genetics · 2026Article
- Contextualizing the Utility of Polygenic Risk Scores using Absolute Risk Models in Diverse Ancestry Populations.medRxiv : the preprint server for health sciences · 2026Article
- Integrating common and rare variants improves polygenic risk prediction across diverse populations.Nature communications · 2026Article
- Improving polygenic score prediction for underrepresented groups through transfer learning.Nature communications · 2026Article
- Polygenic risk score translation across diverse populations.Frontiers in cardiovascular medicine · 2026Review
- PTL-PRS: an R package for transfer learning of polygenic risk scores with pseudovalidation.Bioinformatics (Oxford, England) · 2025Article
- Evaluating multi-ancestry genome-wide association methods: Statistical power, population structure, and practical implications.American journal of human genetics · 2025Article
- Stratifying lung adenocarcinoma risk with multi-ancestry polygenic risk scores in East Asian never-smokers.Journal of the National Cancer Institute · 2025Article
- Methodological opportunities in genomic data analysis to advance health equity.Nature reviews. Genetics · 2025Review
- Stratifying Lung Adenocarcinoma Risk with Multi-ancestry Polygenic Risk Scores in East Asian Never-Smokers.medRxiv : the preprint server for health sciences · 2025Article
- Leveraging local ancestry and cross-ancestry genetic architecture to improve genetic prediction of complex traits in admixed populations.American journal of human genetics · 2025Article
- DiscoDivas: Leveraging genetic ancestry continuum information to interpolate PRS for admixed populations.medRxiv : the preprint server for health sciences · 2025Article
- Almost Free Enhancement of Multi-Population PRS: From Data-Fission to Pseudo-GWAS Subsampling.bioRxiv : the preprint server for biology · 2025Article
- AI-powered precision medicine: utilizing genetic risk factor optimization to revolutionize healthcare.NAR genomics and bioinformatics · 2025Review
- Expanding scope of genetic studies in the era of biobanks.Human molecular genetics · 2025Article
- JointPRS: A data-adaptive framework for multi-population genetic risk prediction incorporating genetic correlation.Nature communications · 2025Article
- PennPRS: a centralized cloud computing platform for efficient polygenic risk score training in precision medicine.medRxiv : the preprint server for health sciences · 2025Article
- Polygenic scores and their applications in kidney disease.Nature reviews. Nephrology · 2025Review
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Authors and funding
17 authors at 11 institutions in 1 country.
Jin JinDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA; Department of Biostatistics, Epidemiology and Informatics, University of Pennsylvania, Philadelphia, PA 19103, USA. Electronic address: jin.jin@pennmedicine.upenn.edu.
Jianan Zhan23andMe, Inc., Sunnyvale, CA 94086, USA.
Jingning ZhangDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Ruzhang ZhaoDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Jared O'Connell23andMe, Inc., Sunnyvale, CA 94086, USA.
Yunxuan Jiang23andMe, Inc., Sunnyvale, CA 94086, USA.
23andMe Research Team23andMe, Inc., Sunnyvale, CA 94086, USA.
Steven BuyskeDepartment of Statistics, Rutgers University, New Brunswick, NJ 08854, USA.
Christopher GignouxColorado Center for Personalized Medicine, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Christopher HaimanDepartment of Preventive Medicine, Keck School of Medicine, University of Southern California, Los Angeles, CA 90032, USA.
Eimear E KennyIcahn Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Charles KooperbergDivision of Public Health Sciences, Fred Hutchinson Cancer Center, Seattle, WA 98109, USA.
Kari NorthDepartment of Epidemiology, University of North Carolina at Chapel Hill, Chapel Hill, NC 27516, USA.
Bertram L Koelsch23andMe, Inc., Sunnyvale, CA 94086, USA.
Genevieve WojcikDepartment of Epidemiology, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA.
Haoyu ZhangDepartment of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, MA 02115, USA; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD 20892, USA.
Nilanjan ChatterjeeDepartment of Biostatistics, Johns Hopkins Bloomberg School of Public Health, Baltimore, MD 21205, USA; Department of Oncology, School of Medicine, Johns Hopkins University, Baltimore, MD 21205, USA. Electronic address: nilanjan@jhu.edu.
23andMe (United States) · USJohns Hopkins University · USFred Hutch Cancer Center · USIcahn School of Medicine at Mount Sinai · USJohns Hopkins Medicine · USNational Cancer Institute · USRutgers, The State University of New Jersey · USUniversity of Colorado Anschutz Medical Campus · USUniversity of North Carolina at Chapel Hill · USUniversity of Pennsylvania · USUniversity of Southern California · US
Funding
Technology to Empower Changes in Health (TECH) Network Participant Technologies CenterU24OD023176 · OD · SCRIPPS RESEARCH INSTITUTE, THE · PI TOPOL, ERIC JEFFREY · 2016 to 2022
$204.7MPrecision Medicine Initiative Cohort Program BiobankU24OD023121 · OD · MAYO CLINIC ROCHESTER · PI CEKANOVA, MARIA, CICEK, MINE · 2016 to 2024
$185.5MEnhancing All of Us Data Resources for Nutrition Precision Health: the All of Us Data and Research CenterU2COD023196 · OD · VANDERBILT UNIVERSITY MEDICAL CENTER · PI GLAZER, DAVID, HARRIS, PAUL A. · 2016 to 2022
$143.7MAdaptive Platform for Personalized EngagementU24OD023163 · OD · VIGNET, INC. · PI JAIN, PRADUMAN · 2017 to 2020
$102.6MPhenotypic Diversity in COVID-19UL1TR001878 · NCATS · UNIVERSITY OF PENNSYLVANIA · PI FITZGERALD, GARRET A · 2016 to 2025
$102.4MUniversity of Arizona-Banner Health All of Us Research Program OT2OD026549 · OD · UNIVERSITY OF ARIZONA · PI MORENO, FRANCISCO A, REIMAN, ERIC MICHAEL · 2018 to 2023
$78.9MCalifornia Precision Medicine Research Program ConsortiumOT2OD026552 · OD · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI ANTON-CULVER, HODA A, OHNO-MACHADO, LUCILA · 2018 to 2023
$73.4MAll of Us PennsylvaniaOT2OD026554 · OD · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI REIS, STEVEN E, VISWESWARAN, SHYAM · 2018 to 2023
$72.1MNew York City Consortium for Precision MedicineOT2OD026556 · OD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI BIER, LOUISE E, GHARAVI, ALI G · 2018 to 2023
$67.3MSouthEast Enrollment Center (SEEC) OT2OD026551 · OD · UNIVERSITY OF MIAMI SCHOOL OF MEDICINE · PI CARRASQUILLO, OLVEEN, COLON, VIVIAN · 2018 to 2023
$62.8MSouthern All of Us NetworkOT2OD026548 · OD · UNIVERSITY OF ALABAMA AT BIRMINGHAM · PI FOUAD, MONA N., KORF, BRUCE R · 2018 to 2023
$60.5MIllinois Precision Medicine Consortium OT2OD026557 · OD · NORTHWESTERN UNIVERSITY AT CHICAGO · PI AHSAN, HABIBUL, ARGOS, MARIA · 2018 to 2023
$60.5MNCATS NIH HHS UL1 TR001878NCI NIH HHS K99 CA256513NCI NIH HHS U01 CA249866NHGRI NIH HHS R00 HG012223NHGRI NIH HHS R01 HG010297NHGRI NIH HHS R01 HG010480NHGRI NIH HHS R35 HG011944NHGRI NIH HHS U01 HG007419NHLBI NIH HHS R01 HL151152NIH HHS OT2 OD023205NIH HHS OT2 OD023206NIH HHS OT2 OD025276NIH HHS OT2 OD025277NIH HHS OT2 OD025315NIH HHS OT2 OD025337NIH HHS OT2 OD026548NIH HHS OT2 OD026549NIH HHS OT2 OD026550NIH HHS OT2 OD026551NIH HHS OT2 OD026552NIH HHS OT2 OD026553NIH HHS OT2 OD026554NIH HHS OT2 OD026555NIH HHS OT2 OD026556NIH HHS OT2 OD026557NIH HHS U24 OD023121NIH HHS U24 OD023163NIH HHS U24 OD023176NIH HHS U2C OD023196
Abstract
Polygenic risk scores (PRSs) are now showing promising predictive performance on a wide variety of complex traits and diseases, but there exists a substantial performance gap across populations. We propose MUSSEL, a method for ancestry-specific polygenic prediction that borrows information in summary statistics from genome-wide association studies (GWASs) across multiple ancestry groups via Bayesian hierarchical modeling and ensemble learning. In our simulation studies and data analyses across four distinct studies, totaling 5.7 million participants with a substantial ancestral diversity, MUSSEL shows promising performance compared to alternatives. For example, MUSSEL has an average gain in prediction R
Indexed as
BivalviaMultifactorial InheritanceAnimalsBayes TheoremGenetic Risk ScoreGenome-Wide Association StudyHumansPhenotypeBayesian hierarchical modelingeffect-size distributionensemble learninggenome-wide association studiesmulti-ancestry polygenic predictionpolygenic architecture
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