GitHub - zaczap/pathscan: 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.

Name		Name	Last commit message	Last commit date
Latest commit History 2 Commits
bootstrap		bootstrap
IRB.pdf		IRB.pdf
README.md		README.md
analyze.py		analyze.py
bundle.sh		bundle.sh
complete_db.txt		complete_db.txt
completed_acmg.csv		completed_acmg.csv
demo.vcf		demo.vcf
output.html		output.html
roxy.vcf		roxy.vcf

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