rs113993960 - CFTR

Magnitude 5.5 · 1 study on file

Reported associations

• Genetics and context for precision health in Greater Boston - Nature communications (2025) · Koyama S, Wang Y, Paruchuri K, Uddin MM, Cho SMJ, Urbut SM, Sui Y, Fahed AC, Kamineni H, Haidermota S, Hornsby WE, Green RC, Daly MJ, Neale BM, Ellinor PT, Smoller JW, Slaugenhaupt SA, Lebo MS, Karlson EW, Martin AR, Natarajan P, Green RC, Smoller JW, Lebo MS, Martin AR, Natarajan P, Koyama S, Cho SMJ, Fahed AC, Green RC, Lebo MS, Karlson EW, Natarajan P, Koyama S, Paruchuri K, Urbut SM, Green RC, Smoller JW, Lebo MS, Karlson EW, Neale BM, Smoller JW, Martin AR · PubMed 41298473

  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), currently encompassing 142,238 participants, to unravel the intricate relationships among genomic profiles, environmental context, and disease manifestations within clinical practice. In this manuscript, we described genetic and phenotypic diversity and their interaction in the MGBB by employing population genetics, geospatial assessment, and association analyses of rare and common genetic variants. The population genetic variation captured the demographic histories in the Greater Boston area throughout American history, highlighting communities tied to shared genetic and environmenta

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