Improve database description for more reliable skill calling

This commit is contained in:
Timothy Kassis
2025-10-20 16:02:48 -07:00
parent 50507d26bb
commit 00c69058c3
21 changed files with 21 additions and 21 deletions

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name: clinvar-database
description: Work with ClinVar, NCBI's public archive of genomic variants and their clinical significance. Use when querying variant pathogenicity, searching for disease-associated mutations, interpreting clinical classifications, accessing variant data programmatically via E-utilities API, downloading bulk datasets from FTP, or analyzing variant-condition relationships for research in human genetics and precision medicine.
description: Access and analyze ClinVar, NCBI's authoritative database of human genomic variants and their clinical significance classifications. Use this skill when: searching for pathogenic, benign, or VUS variants by gene name, chromosome position, or disease condition; interpreting clinical significance classifications (pathogenic, likely pathogenic, uncertain significance, likely benign, benign) and review status star ratings; querying variant pathogenicity for specific genes like BRCA1, BRCA2, TP53, CFTR; accessing ClinVar data programmatically via NCBI E-utilities API (esearch, esummary, efetch); downloading bulk ClinVar datasets from FTP in XML, VCF, or tab-delimited formats; annotating variant call files (VCF) with clinical significance; analyzing variant-condition relationships for genetic disease research; resolving conflicting variant interpretations between submitters; filtering variants by review status (expert panel, practice guidelines); building local ClinVar databases for genomic analysis pipelines; studying hereditary cancer variants, Mendelian disease mutations, or pharmacogenomic variants; performing variant interpretation for precision medicine applications; accessing ClinVar submission data and evidence criteria; tracking variant classification updates over time; or any task requiring authoritative clinical variant interpretation data from NCBI's ClinVar database.
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# ClinVar Database