sephraim/convert_1000Gp3_VCFs
Combine, normalize and format all 1KG phase 3 VCFs to include AC, AN, and AF for each super-population
All gene symbols and their respective hg19 chromosomal regions
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Combine, normalize and format all 1KG phase 3 VCFs to include AC, AN, and AF for each super-population
Download the latest release of the MacArthur Lab's version of ClinVar in TSV format and convert it to a VCF file
Convert HGVS names from NC to NM (and vice versa) and infer NP protein changes
Convert a ClinVar XML file to a VCF file