Using ClinVar as a Resource to Support Variant Interpretation
نویسندگان
چکیده
منابع مشابه
ClinVar Is a Critical Resource to Advance Variant Interpretation
1. The bulk of the analysis in the Gradishar et al. study was based on ClinVar data from February 2015; however, concordance has greatly increased since then. As of May 2017, only 856/12,809 (6.7%) of BRCA1/2 variants are flagged as discordant. Additionally, in assessing discordance, the authors neglected to differentiate between ClinVar star status and interpretation differences that do or do ...
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ژورنال
عنوان ژورنال: Current Protocols in Human Genetics
سال: 2016
ISSN: 1934-8266,1934-8258
DOI: 10.1002/0471142905.hg0816s89