期刊
HUMAN MUTATION
卷 39, 期 8, 页码 1051-1060出版社
WILEY
DOI: 10.1002/humu.23555
关键词
clinical domain working group; ClinVar; expert panel; variant archive; variant curation; variant interpretation
资金
- U.S. National Library of Medicine [T15LM007124]
- National Human Genome Research Institute [HG006834-01A1, U01HG007437-01]
ClinVar Miner is a Web-based suite that utilizes the data held in the National Center for Biotechnology Information's ClinVar archive. The goal is to render the data more accessible to processes pertaining to conflict resolution of variant interpretation as well as tracking details of data submission and data management for detailed variant curation. Here, we establish the use of these tools to address three separate use cases and to perform analyses across submissions. We demonstrate that the ClinVar Miner tools are an effective means to browse and consolidate data for variant submitters, curation groups, and general oversight. These tools are also relevant to the variant interpretation community in general.
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