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Maintainer K-Dense Inc. · Last updated April 1, 2026
ClinVar is NCBI's freely accessible archive of reports on relationships between human genetic variants and phenotypes, with supporting evidence. The database aggregates information about genomic variation and its relationship to human health, providing standardized variant classifications used in clinical genetics and research.
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https://github.com/K-Dense-AI/claude-scientific-skills/tree/main/scientific-skills/clinvar-database
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Search arXiv physics, math, and computer science preprints using natural language queries. Powered by Valyu semantic search.
Preprocesses cell-free DNA sequencing data including adapter trimming, alignment optimized for short fragments, and UMI-aware duplicate remo…
Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local VCF. Use when determi…
Query dbSNP for rsID lookups, variant annotations, and cross-references to other databases. Use when mapping between rsIDs and genomic coord…