Medical & Healthcare
ClinVar Database
Utilities for querying the NCBI ClinVar database to retrieve variant records, clinical significance, and phenotype relationships; use when searching variants by gene/condition/significance, interpreting Pathogenic/Benign/VUS classifications, or annotating VCF files with ClinVar annotations.
- Publisher / source
- aipoch/medical-research-skills (found on GitHub top repositories)
- Upstream record
- aipoch/medical-research-skills
- Version
- Version 1
- Published
- Publication review
- Approved for publication
- Content fingerprint
3d19314ee7d8bf15cf5676e96248d7a816c2d5600de78c962ec3999f3e757a10