High-frequency actionable pathogenic exome variants in an average-risk cohort.

ABSTRACT: Exome sequencing is increasingly utilized in both clinical and nonclinical settings, but little is known about its utility in healthy individuals. Most previous studies on this topic have examined a small subset of genes known to be implicated in human disease and/or have used automated pipelines to assess pathogenicity of known variants. To determine the frequency of both medically actionable and nonactionable but medically relevant exome findings in the general population we assessed the exomes of 70 participants who have been extensively characterized over the past several years as part of a longitudinal integrated multiomics profiling study. We analyzed exomes by identifying rare likely pathogenic and pathogenic variants in genes associated with Mendelian disease in the Online Mendelia

SUBMITTER: Rego S 

PROVIDER: S-EPMC6318774 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature