ClinVar: improving access to variant interpretations and supporting evidence

作者：Melissa Landrum, Jennifer M. Lee, Mark J. Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Anne Hart, Douglas C. Hoffman, Wonhee Jang, K. V. Karapetyan, Kenneth Katz, Chunlei Liu, Zenith Maddipatla, Adriana Malheiro, Kurt McDaniel, Michael Ovetsky, George F. Riley, George Zhou, J. Bradley Holmes, Brandi L. Kattman, Donna R. Maglott · 发表于：Nucleic Acids Research · 年份：2017 · DOI：10.1093/nar/gkx1153 · 被引用次数：4615 · 研究领域：Genomics and Rare Diseases、Biomedical Text Mining and Ontologies、Cancer Genomics and Diagnostics

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 of variants). Data aggregated by variant are accessible on the website, in an improved set of variant call format files and as a new comprehensive XML report. ClinVar recently started accepting submissions that are focused primarily on providing phenotypic information for individuals who have had genetic testing. Submissions may come from clinical providers providing their own interpretation of the variant ('provider interpretation') or from groups such as patient registries that primarily provide phenotypic information from patients ('phenotyping only'). ClinVar continues to make improvements to its search and retrieval functions. Several new fields are now indexed for more precise searching, and filters allow the user to narrow down a large set of search results.