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Dewey, Frederick E.; Murray, Michael F.; Overton, John D.; Habegger, Lukas; Leader, Joseph B.; Fetterolf, Samantha N.; O’Dushlaine, Colm; Van Hout, Cristopher V.; Staples, Jeffrey; Gonzaga-Jauregui, Claudia; Metpally, Raghu; Pendergrass, Sarah A.; Giovanni, Monica A.; Kirchner, H. Lester; Balasubramanian, Suganthi; Abul-Husn, Noura S.; Hartzel, Dustin N.; Lavage, Daniel R.; Kost, Korey A.; Packer, Jonathan S.; Lopez, Alexander E.; Penn, John; Mukherjee, Semanti; Gosalia, Nehal; [...]

Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study

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  • Medientyp: E-Artikel
  • Titel: Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
  • Beteiligte: Dewey, Frederick E.; Murray, Michael F.; Overton, John D.; Habegger, Lukas; Leader, Joseph B.; Fetterolf, Samantha N.; O’Dushlaine, Colm; Van Hout, Cristopher V.; Staples, Jeffrey; Gonzaga-Jauregui, Claudia; Metpally, Raghu; Pendergrass, Sarah A.; Giovanni, Monica A.; Kirchner, H. Lester; Balasubramanian, Suganthi; Abul-Husn, Noura S.; Hartzel, Dustin N.; Lavage, Daniel R.; Kost, Korey A.; Packer, Jonathan S.; Lopez, Alexander E.; Penn, John; Mukherjee, Semanti; Gosalia, Nehal; [...]
  • Erschienen: American Association for the Advancement of Science (AAAS), 2016
  • Erschienen in: Science
  • Sprache: Englisch
  • DOI: 10.1126/science.aaf6814
  • ISSN: 1095-9203; 0036-8075
  • Entstehung:
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  • Beschreibung: <jats:title>Unleashing the power of precision medicine</jats:title> <jats:p> 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 <jats:italic>et al.</jats:italic> 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 <jats:italic>et al.</jats:italic> 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. </jats:p> <jats:p> <jats:italic>Science</jats:italic> , this issue p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" related-article-type="in-this-issue" xlink:href="10.1126/science.aaf6814">10.1126/science.aaf6814</jats:related-article> , p. <jats:related-article xmlns:xlink="http://www.w3.org/1999/xlink" ext-link-type="doi" related-article-type="in-this-issue" xlink:href="10.1126/science.aaf7000">10.1126/science.aaf7000</jats:related-article> </jats:p>