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Recommendations for responsible use of population descriptors in polygenic risk score development.

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Title: Recommendations for responsible use of population descriptors in polygenic risk score development.
Authors: Smith JL; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., Adebamowo CA; Department of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA., Adebamowo SN; Department of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA., Darst BF; Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA., Fullerton SM; Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA., Gogarten SM; Department of Biostatistics, University of Washington, Seattle, WA, USA., Hamed ME; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA., Hirbo JB; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Hysong MR; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Johar AS; Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia., Khan AT; Department of Biostatistics, University of Washington, Seattle, WA, USA., Kullo IJ; Division of Cardiovascular Medicine, Cardiovascular Research Center and the Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA., Konigsberg IR; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Kraft P; Department of Epidemiology, Harvard University, Boston, MA, USA., Lange LA; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA., Li Y; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA., Martin AR; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Nelson SC; Department of Biostatistics, University of Washington, Seattle, WA, USA., Choudhury A; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa., Ramsay M; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa., Cobran EK; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Schaid DJ; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA., Sharma J; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Wang Y; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA., Wojcik GL; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA., Sun Q; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. sunq@chop.edu.; Center for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA. sunq@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. sunq@chop.edu.
Corporate Authors: Polygenic Risk Methods Development (PRIMED) Consortium
Source: Nature genetics [Nat Genet] 2025 Dec; Vol. 57 (12), pp. 2962-2971. Date of Electronic Publication: 2025 Nov 24.
Publication Type: Journal Article; Review
Journal Info: Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE
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  Data: <searchLink fieldCode="AU" term="%22Smith+JL%22">Smith JL</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Adebamowo+CA%22">Adebamowo CA</searchLink>; Department of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Adebamowo+SN%22">Adebamowo SN</searchLink>; Department of Epidemiology and Public Health, University of Maryland, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Darst+BF%22">Darst BF</searchLink>; Public Health Sciences Division, Fred Hutchinson Cancer Center, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Fullerton+SM%22">Fullerton SM</searchLink>; Department of Bioethics and Humanities, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Gogarten+SM%22">Gogarten SM</searchLink>; Department of Biostatistics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Hamed+ME%22">Hamed ME</searchLink>; Department of Cardiovascular Medicine, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Hirbo+JB%22">Hirbo JB</searchLink>; Division of Genetic Medicine, Department of Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Hysong+MR%22">Hysong MR</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Johar+AS%22">Johar AS</searchLink>; Menzies Institute of Medical Research, University of Tasmania, Hobart, Tasmania, Australia.<br /><searchLink fieldCode="AU" term="%22Khan+AT%22">Khan AT</searchLink>; Department of Biostatistics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Kullo+IJ%22">Kullo IJ</searchLink>; Division of Cardiovascular Medicine, Cardiovascular Research Center and the Mellowes Center for Genomic Sciences and Precision Medicine, Medical College of Wisconsin, Milwaukee, WI, USA.<br /><searchLink fieldCode="AU" term="%22Konigsberg+IR%22">Konigsberg IR</searchLink>; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Kraft+P%22">Kraft P</searchLink>; Department of Epidemiology, Harvard University, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Lange+LA%22">Lange LA</searchLink>; Department of Biomedical Informatics, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.<br /><searchLink fieldCode="AU" term="%22Li+Y%22">Li Y</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Martin+AR%22">Martin AR</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Nelson+SC%22">Nelson SC</searchLink>; Department of Biostatistics, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Choudhury+A%22">Choudhury A</searchLink>; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Ramsay+M%22">Ramsay M</searchLink>; Sydney Brenner Institute for Molecular Bioscience, University of the Witwatersrand, Johannesburg, South Africa.<br /><searchLink fieldCode="AU" term="%22Cobran+EK%22">Cobran EK</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Schaid+DJ%22">Schaid DJ</searchLink>; Department of Quantitative Health Sciences, Mayo Clinic, Rochester, MN, USA.<br /><searchLink fieldCode="AU" term="%22Sharma+J%22">Sharma J</searchLink>; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wang+Y%22">Wang Y</searchLink>; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Wojcik+GL%22">Wojcik GL</searchLink>; Department of Epidemiology, Johns Hopkins University, Baltimore, MD, USA.<br /><searchLink fieldCode="AU" term="%22Sun+Q%22">Sun Q</searchLink>; Department of Biostatistics, University of North Carolina at Chapel Hill, Chapel Hill, NC, USA. sunq@chop.edu.; Center for Computational and Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA. sunq@chop.edu.; Department of Pathology and Laboratory Medicine, University of Pennsylvania, Philadelphia, PA, USA. sunq@chop.edu.
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