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Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.

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Title: Improving type 2 diabetes polygenic risk scores by incorporating rare, low-frequency, and population-specific variants.
Authors: Taylor K; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA., Huerta-Chagoya A; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 2114, USA.; Diabetes Unit, Massachusetts General Hospital, Boston, MA, 2114, USA., Wang X; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National, Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD, USA., Vora M; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 2114, USA., Li J; Department of Genomic Health, Geisinger, Danville, PA, USA., Turk L; Estonian Genome Center, Institute of Genomics, University of Tartu, Estonia., Heng TH; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK., Kim J; Vanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Moreno-Estrada A; Aging Research Center, Cinvestav Sede Sur, Center for Research and Advanced Studies of the National Polytechnic Institute, Mexico City, Mexico., Tusie-Luna T; Unidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico., Aguilar-Salinas C; Unidad de Investigación de Enfermedades Metabólicas, Research Direction of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Tecnológico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico City, Mexico., Ng M; Vanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA., Martin HC; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK., van Heel DA; Blizard Institute, Queen Mary University of London, London, UK., Manning A; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Clinical and Translational Epidemiology Unit, Mongan Institute, Massachusetts General Hospital, Boston, MA, 2114, USA.; Department of Medicine, Harvard Medical School, Boston, MA, 2215, USA., Carey D; Department of Genomic Health, Geisinger, Danville, PA, USA., Palta P; Estonian Genome Center, Institute of Genomics, University of Tartu, Estonia., Kurki MI; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland., Finer S; Wolfson Institute of Population Health, Queen Mary University of London, London, UK., Ge T; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA., Mirshahi UL; Department of Genomic Health, Geisinger, Danville, PA, USA., Zhang H; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA., Mercader JM; Diabetes Unit, Massachusetts General Hospital, Boston, MA, 2114, USA.; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 2114, USA.; Department of Medicine, Harvard Medical School, Boston, MA, 2215, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Corporate Authors: Genes & Health Research Team
Source: MedRxiv : the preprint server for health sciences [medRxiv] 2025 Nov 28. Date of Electronic Publication: 2025 Nov 28.
Publication Type: Journal Article; Preprint
Journal Info: Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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PubType: Academic Journal
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  Data: <searchLink fieldCode="AU" term="%22Taylor+K%22">Taylor K</searchLink>; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.<br /><searchLink fieldCode="AU" term="%22Huerta-Chagoya+A%22">Huerta-Chagoya A</searchLink>; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 2114, USA.; Diabetes Unit, Massachusetts General Hospital, Boston, MA, 2114, USA.<br /><searchLink fieldCode="AU" term="%22Wang+X%22">Wang X</searchLink>; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.; Cancer Genomics Research Laboratory, Frederick National, Laboratory for Cancer Research, Leidos Biomedical Research Inc, Frederick, MD, USA.<br /><searchLink fieldCode="AU" term="%22Vora+M%22">Vora M</searchLink>; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; 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Unidad de Biología Molecular y Medicina Genómica, Instituto de Investigaciones Biomédicas, Universidad Nacional Autónoma de México/Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Aguilar-Salinas+C%22">Aguilar-Salinas C</searchLink>; Unidad de Investigación de Enfermedades Metabólicas, Research Direction of the Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Tecnológico de Monterrey, Escuela de Medicina y Ciencias de la Salud, Mexico City, Mexico.<br /><searchLink fieldCode="AU" term="%22Ng+M%22">Ng M</searchLink>; Vanderbilt Genetics Institute, Division of Genetic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Martin+HC%22">Martin HC</searchLink>; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton CB10 1SA, UK.<br /><searchLink fieldCode="AU" term="%22van+Heel+DA%22">van Heel DA</searchLink>; 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Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki Institute of Life Science (HiLIFE), University of Helsinki, Helsinki, Finland.<br /><searchLink fieldCode="AU" term="%22Finer+S%22">Finer S</searchLink>; Wolfson Institute of Population Health, Queen Mary University of London, London, UK.<br /><searchLink fieldCode="AU" term="%22Ge+T%22">Ge T</searchLink>; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Psychiatric and Neurodevelopmental Genetics Unit, Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Center for Precision Psychiatry, Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Mirshahi+UL%22">Mirshahi UL</searchLink>; Department of Genomic Health, Geisinger, Danville, PA, USA.<br /><searchLink fieldCode="AU" term="%22Zhang+H%22">Zhang H</searchLink>; Division of Cancer Epidemiology and Genetics, National Cancer Institute, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mercader+JM%22">Mercader JM</searchLink>; Diabetes Unit, Massachusetts General Hospital, Boston, MA, 2114, USA.; Programs in Metabolism and Medical and Population Genetics, Broad Institute of Harvard and MIT, Cambridge, MA, 2142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, 2114, USA.; Department of Medicine, Harvard Medical School, Boston, MA, 2215, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
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