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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.
zaczap/pathscan
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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.
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