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Reusable instructions for compatible AI agents.
Field counts come from the latest full-catalog snapshot. A resource can belong to several fields and platforms.
Resolves rsIDs, navigates RsMergeArch/SNPHistory merge chains, and converts between rsID, SPDI, HGVS, and VCF representations using the dbSNP Build 156 JSON architecture. Use when normalizing variant identifiers, joining variant databases by cluster ID, or tracking deprecated rsIDs through histor...
Query gnomAD for population allele frequencies to assess variant rarity. Use when filtering variants by population frequency for rare disease analysis or determining if a variant is common in the general population.
Query myvariant.info API for aggregated variant annotations from multiple databases (ClinVar, gnomAD, dbSNP, COSMIC, etc.) in a single request. Use when annotating variants with clinical and population data from multiple sources simultaneously.
Filter and prioritize variants by pathogenicity, population frequency, and clinical evidence for rare disease analysis. Use when identifying candidate disease-causing variants from exome or genome sequencing.
Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOEUF interpretation, SV/CNV/mtDNA catalogs, and Whiffin max-credible-AF framework. Use when filtering rare variants, applying ACMG BS1/BA1, ranking genes by LoF intolerance, or sel...
Agent skill for Researcher, Clinical Research, Data Scientist, published by diegosouzapw. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by Rudson-Oliveira. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by Rudson-Oliveira. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by Rudson-Oliveira. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by FridrichMethod. Project details and file access are provided by the publisher.
Agent skill for Researcher, Clinical Research, Data Scientist, published by FridrichMethod. Project details and file access are provided by the publisher.
Agent skill for Clinical Research, Health Informatics, Data Scientist, published by majiayu000. Project details and file access are provided by the publisher.
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