vaRHC: an R package for semi-automation of variant classification in hereditary cancer genes according to ACMG/AMP and gene-specific ClinGen guidelines
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DOI: 10.1093/bioinformatics/btad128
Abstract: Abstract Motivation Germline variant classification allows accurate genetic diagnosis and risk assessment. However, it is a tedious iterative process integrating information from several sources and types of evidence. It should follow gene-specific (if available) or… read more here.
Keywords: classification; variant classification; varhc package; gene specific ... See more keywords