Original paper
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...
Paper Details
Title
High-frequency actionable pathogenic exome variants in an average-risk cohort
Published Date
Nov 28, 2018
Journal
Volume
4
Issue
6
Pages
a003178 - a003178
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Notes
History