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维护者 K-Dense Inc. · 最近更新 2026年4月1日
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.
原始来源
https://github.com/K-Dense-AI/claude-scientific-skills/tree/main/scientific-skills/clinvar-database
技能摘要
相关技能
Search arXiv physics, math, and computer science preprints using natural language queries. Powered by Valyu semantic sea…
Preprocesses cell-free DNA sequencing data including adapter trimming, alignment optimized for short fragments, and UMI-…
Query ClinVar for variant pathogenicity classifications, review status, and disease associations via REST API or local V…
Query dbSNP for rsID lookups, variant annotations, and cross-references to other databases. Use when mapping between rsI…