clinvar-querier
SolidClinVar database query skill for clinical variant interpretation and pathogenicity lookup
Install
Quality Score: 94/100
Skill Content
Details
- Author
- a5c-ai
- Repository
- a5c-ai/babysitter
- Created
- 4 months ago
- Last Updated
- today
- Language
- JavaScript
- License
- MIT
Similar Skills
Semantically similar based on skill content — not just same category
clinvar-database
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
clinvar-database
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
clinvar-database
Query NCBI ClinVar for variant clinical significance. Search by gene/position, interpret pathogenicity classifications, access via E-utilities API or FTP, annotate VCFs, for genomic medicine.
clinvar-database
Query NCBI ClinVar via E-utilities for variant clinical significance, pathogenicity, disease associations. Search by gene/rsID/condition/review status; returns ClinSig, submitter data, conditions, HGVS. For GWAS use gwas-database; for variant consequence prediction use Ensembl VEP.
acmg-variant-classifier
ACMG/AMP variant classification skill for systematic pathogenicity assessment