title: Increasing precision in medicine - tackling the bottleneck of variant interpretation.
abstract: If raw DNA sequencing data gave biological insights, there would be no more need for innovation. Interpreting genetic variants at scale continues to challenge evidence-based medicine. Whether using proprietary databases of variant reference content or crowd sourced data, one has to be able to assign some level of confidence to his or her inter¬pretation, define which variants are actionable, and with time speak to the clinical utility of the use of the biomarker.
authors.affiliation: Thomson Reuters, Boston, Massachusetts, USA. melinda.baker@thomsonreuters.com.
authors.forename: M
authors.initials: M
authors.lastname: Baker
mesh_terms: D000818:Animals; D019317:Evidence-Based Medicine; D014644:Genetic Variation; D015894:Genome, Human; D006801:Humans; D057285:Precision Medicine / Q000639:trends*; D017422:Sequence Analysis, DNA / Q000639:trends*
keywords: Genetic variants; Next-generation sequencing; Precision medicine; Whole genome sequencing