ClinVar Genomic Analysis

This skill integrates the NCBI ClinVar database into the Claude Code environment, allowing researchers and bioinformaticians to programmatically search for human genetic variants, interpret clinical significance, and process bulk genomic data. It provides standardized guidance for navigating the E-utilities API, interpreting ACMG/AMP pathogenicity classifications, and automating VCF annotation. By bridging the gap between raw genomic files and clinical evidence, it streamlines the analysis of variant-phenotype relationships and supports evidence-based genomic medicine workflows.

주요 기능

사용 사례