domains / families / science / gnomad-frequencies

gnomad-frequencies

separate

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).

When to use

When not to use

Skill page

Source

RepositoryPath
GPTomics/bioSkillsclinical-databases/gnomad-frequencies/SKILL.md