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Decoding Genetics, Ancestry, and Geospatial Context for Precision Health.
Koyama, Satoshi; Wang, Ying; Paruchuri, Kaavya; Uddin, Md Mesbah; Cho, So Mi J; Urbut, Sarah M; Haidermota, Sara; Hornsby, Whitney E; Green, Robert C; Daly, Mark J; Neale, Benjamin M; Ellinor, Patrick T; Smoller, Jordan W; Lebo, Matthew S; Karlson, Elizabeth W; Martin, Alicia R; Natarajan, Pradeep.
Affiliation
  • Koyama S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Wang Y; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Paruchuri K; Department of Medicine, Harvard Medical School, Boston, MA, USA.
  • Uddin MM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Cho SMJ; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Urbut SM; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Haidermota S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Hornsby WE; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Green RC; Department of Medicine, Harvard Medical School, Boston, MA, USA.
  • Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Neale BM; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Ellinor PT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Smoller JW; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Lebo MS; Integrative Research Center for Cerebrovascular and Cardiovascular Diseases, Yonsei University College of Medicine, Seoul, Republic of Korea.
  • Karlson EW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
  • Martin AR; Cardiovascular Research Center and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.
  • Natarajan P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
medRxiv ; 2023 Oct 25.
Article in En | MEDLINE | ID: mdl-37961173
ABSTRACT
Mass General Brigham, an integrated healthcare system based in the Greater Boston area of Massachusetts, annually serves 1.5 million patients. We established the Mass General Brigham Biobank (MGBB), encompassing 142,238 participants, to unravel the intricate relationships among genomic profiles, environmental context, and disease manifestations within clinical practice. In this study, we highlight the impact of ancestral diversity in the MGBB by employing population genetics, geospatial assessment, and association analyses of rare and common genetic variants. The population structures captured by the genetics mirror the sequential immigration to the Greater Boston area throughout American history, highlighting communities tied to shared genetic and environmental factors. Our investigation underscores the potency of unbiased, large-scale analyses in a healthcare-affiliated biobank, elucidating the dynamic interplay across genetics, immigration, structural geospatial factors, and health outcomes in one of the earliest American sites of European colonization.

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: MedRxiv Year: 2023 Document type: Article Affiliation country: United States

Full text: 1 Collection: 01-internacional Database: MEDLINE Language: En Journal: MedRxiv Year: 2023 Document type: Article Affiliation country: United States