folklore-variant-evidence
FeaturedRetrieve ClinGen gene-disease validity assertions for a public gene or disease, and review source-linked public evidence and literature for one supported GRCh38 germline nuclear SNV or simple indel through Folklore Clinical Variant Interpretation MCP. Use when a scientific agent must branch deterministically on resolved, ambiguous, not-found, invalid, unsupported, or unavailable variant outcomes; chain a resolved public variant into related literature or publication details; or preserve evidence provenance without accepting patient, phenotype, family, segregation, or private case data.
Install
Quality Score: 99/100
Skill Content
Details
- Author
- K-Dense-AI
- Repository
- K-Dense-AI/scientific-agent-skills
- Created
- 11 months ago
- Last Updated
- 5 days ago
- Language
- Python
- License
- MIT
Similar Skills
Semantically similar based on skill content — not just same category
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.
gnomad-database
gnomAD v4 population variant frequencies via GraphQL API. Allele counts and frequencies stratified by ancestry (AFR, AMR, EAS, NFE, SAS, FIN, ASJ, MID), gene-level constraint (pLI, LOEUF, missense z), and coverage. Identify rare or constrained variants. For clinical pathogenicity use clinvar-database; for GWAS use gwas-database.
research-literature-evidence
Build an append-only, auditable path from preregistered literature searches to precisely located evidence candidates while keeping snippets, OCR, AI interpretations, self-attested human review, synthetic fixtures, and unclear rights from becoming academic or public evidence. Use for books, papers, catalogues, webpages, inscriptions, and other research sources when queries, discoveries, failures, editions, carriers, locators, excerpts, conflicts, and review gates must remain reproducible.