bio-clinical-databases-gnomad-frequencies
Queries gnomAD v4 (807k samples), v3, v2.1.1, and constraint metrics with grpmax FAF95, bottleneck-group exclusion, LOE…
Live
Open / InstallLast updated July 27, 2026
Description
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 selecting between v2 (GRCh37 + chrX/Y constraint) and v4 (GRCh38 + 807k samples). A reusable SKILL.md agent skill by GPTomics.
Author
GPTomics
Platform
cli
Pricing model
free
Categories
Skills
Tags
skill
claude-skill
github
en
Capabilities
- 1,053 stars
- SKILL.md package