Paper availabile here: Link.
An easy to use tool to identify pathogenic variants in genomic data; identifies variants listed as pathogenic in ClinVar that the ACMG recommendation implies should be incidental, reportable findings from VCFs, Complete Genomics variant files, and 23andMe SNP reports.
Paper availabile here: Link.
An easy to use tool to identify pathogenic variants in genomic data; identifies variants listed as pathogenic in ClinVar that the ACMG recommendation implies should be incidental, reportable findings from VCFs, Complete Genomics variant files, and 23andMe SNP reports.