Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
Author:
Dewey Frederick E.1, Murray Michael F.2, Overton John D.1, Habegger Lukas1, Leader Joseph B.2, Fetterolf Samantha N.2, O’Dushlaine Colm1, Van Hout Cristopher V.1, Staples Jeffrey1, Gonzaga-Jauregui Claudia1, Metpally Raghu2, Pendergrass Sarah A.2, Giovanni Monica A.2, Kirchner H. Lester2, Balasubramanian Suganthi1, Abul-Husn Noura S.1, Hartzel Dustin N.2, Lavage Daniel R.2, Kost Korey A.2, Packer Jonathan S.1, Lopez Alexander E.1, Penn John1, Mukherjee Semanti1, Gosalia Nehal1, Kanagaraj Manoj1, Li Alexander H.1, Mitnaul Lyndon J.1, Adams Lance J.2, Person Thomas N.2, Praveen Kavita1, Marcketta Anthony1, Lebo Matthew S.3, Austin-Tse Christina A.3, Mason-Suares Heather M.3, Bruse Shannon1, Mellis Scott4, Phillips Robert4, Stahl Neil4, Murphy Andrew4, Economides Aris1, Skelding Kimberly A.2, Still Christopher D.2, Elmore James R.2, Borecki Ingrid B.1, Yancopoulos George D.4, Davis F. Daniel2, Faucett William A.2, Gottesman Omri1, Ritchie Marylyn D.2, Shuldiner Alan R.1, Reid Jeffrey G.1, Ledbetter David H.2, Baras Aris1, Carey David J.2
Affiliation:
1. Regeneron Genetics Center, Tarrytown, NY 10591, USA. 2. Geisinger Health System, Danville, PA 17822, USA. 3. Laboratory for Molecular Medicine, Cambridge, MA 02139, USA. 4. Regeneron Pharmaceuticals, Tarrytown, NY 10591, USA.
Abstract
Unleashing the power of precision medicine
Precision medicine promises the ability to identify risks and treat patients on the basis of pathogenic genetic variation. Two studies combined exome sequencing results for over 50,000 people with their electronic health records. Dewey
et al.
found that ∼3.5% of individuals in their cohort had clinically actionable genetic variants. Many of these variants affected blood lipid levels that could influence cardiovascular health. Abul-Husn
et al.
extended these findings to investigate the genetics and treatment of familial hypercholesterolemia, a risk factor for cardiovascular disease, within their patient pool. Genetic screening helped identify at-risk patients who could benefit from increased treatment.
Science
, this issue p.
10.1126/science.aaf6814
, p.
10.1126/science.aaf7000
Funder
Regeneron Pharmaceuticals
Publisher
American Association for the Advancement of Science (AAAS)
Subject
Multidisciplinary
Cited by
454 articles.
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