ClinVar Database Assistant

关于

This skill empowers Claude to interact with the NCBI ClinVar archive, a critical resource for genomic medicine that aggregates reports on human genetic variants and phenotypes. It provides specialized guidance on searching variants by gene or condition, interpreting complex pathogenicity classifications like Pathogenic, Benign, and VUS, and accessing data through E-utilities APIs or bulk FTP downloads. Whether you are annotating VCF files for a bioinformatics pipeline or resolving conflicting variant interpretations, this skill ensures best practices in clinical genetics data handling and analysis.

主要功能

• Bulk data processing for XML, VCF, and tab-delimited formats
• 3 GitHub stars
• Interpretation of ACMG/AMP clinical significance classifications
• Guidance on resolving conflicting variant interpretations
• Standardized variant search by gene, position, or condition
• Programmatic access via NCBI E-utilities API and curl

使用场景

• Filtering and prioritizing pathogenic variants in specific gene panels
• Automating bulk downloads of ClinVar datasets for local bioinformatics pipelines
• Annotating genomic VCF files with clinical significance for research