cyberneticlibrary

Annotate genetic variants with clinical data

clinvar-annotationskillsetup L2★35

ammawla/encode-toolkit ↗

What it does

Annotate genomic variants with ClinVar data

Best for

Annotating genomic variants with ClinVar pathogenicity and frequency data.

Inputs

· VCF file
· ClinVar reference

Outputs

· Annotated VCF
· Pathogenicity scores
· Frequency data

Requires

· ClinVar API
· VCF parser

Preconditions

· Valid VCF
· Current ClinVar

Failure modes

· Variant not found
· Parse error
· Outdated DB

Trust signals

· ClinVar NCBI official