ClinVar: improving access to variant interpretations and supporting evidence
Abstract
ClinVar (https://www.ncbi.nlm.nih.gov/clinvar/) is a freely available, public archive of human genetic variants and interpretations of their significance to disease, maintained at the National Institutes of Health. Interpretations of the clinical significance of variants are submitted by clinical testing laboratories, research laboratories, expert panels and other groups. ClinVar aggregates data by variant-disease pairs, and by variant (or set...
Paper Details
Title
ClinVar: improving access to variant interpretations and supporting evidence
Published Date
Nov 20, 2017
Journal
Volume
46
Issue
D1
Pages
D1062 - D1067
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