ClinvarAnnotator

Human disease variant annotator

What it does: Reads a Variant Call Format (VCF) file and looks up every variant in the public ClinVar database. For each match, it adds ClinVar’s clinical annotation (e.g., human disease, drug response, etc. ) to the original VCF.

Result(s): A VCF file annotated with DNA variants associated to diseases or drug responses for researchers to quickly identify clinically relevant variants.

Tool Documentation: https://bimberlab.github.io/DISCVRSeq/toolDoc/com_github_discvrseq_walkers_ClinvarAnnotator.html