Does it require a local database download?

No, this skill primarily uses the gnomAD GraphQL API for programmatic, real-time data retrieval without needing to host large VCF files locally.

What are pLI and LOEUF scores used for?

These are constraint scores that indicate how intolerant a gene is to loss-of-function variants, helping prioritize genes in rare disease studies.

Which gnomAD versions are supported by this skill?

This skill supports gnomAD v4 (default for GRCh38), v3 (genomes only), and v2.1 (for GRCh37 compatibility).

Can I use this for ACMG variant classification?

Yes, it provides the allele frequency data necessary to apply BA1, BS1, and PM2 evidence codes for clinical variant interpretation.

gnomAD Genetic Database Integration

Name: gnomAD Genetic Database Integration
Author: lingxling

bylingxling

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データサイエンスとML

Queries the Genome Aggregation Database (gnomAD) for population allele frequencies, variant constraint scores, and genetic pathogenicity insights.

This skill empowers Claude to interact with the gnomAD GraphQL API, the world's largest collection of human genetic variation data. It provides standardized methods for retrieving population-specific allele frequencies, gene constraint metrics like pLI and LOEUF, and structural variant data across multiple datasets (v2, v3, and v4). This is essential for researchers and bioinformaticians performing clinical variant interpretation, rare disease gene discovery, and population genetics analysis using both GRCh37 and GRCh38 reference genomes.

主な機能

01Analyze structural variants (gnomAD-SV) within specific genomic regions

02Query GraphQL API for gnomAD v2, v3, and v4 datasets

03Lookup population-stratified allele frequencies across diverse ancestries

04Retrieve gene-level constraint scores (pLI, LOEUF, Z-scores)

0539 GitHub stars

06Standardized workflows for ACMG pathogenicity assessment (BA1, BS1, PM2 codes)

ユースケース

01Identifying LoF-intolerant genes for prioritization in research studies

02Filtering common benign variants during rare disease clinical diagnosis

03Comparing allele frequency differences across global populations for genetic research

主な機能

01Analyze structural variants (gnomAD-SV) within specific genomic regions

02Query GraphQL API for gnomAD v2, v3, and v4 datasets

03Lookup population-stratified allele frequencies across diverse ancestries

04Retrieve gene-level constraint scores (pLI, LOEUF, Z-scores)

0539 GitHub stars

06Standardized workflows for ACMG pathogenicity assessment (BA1, BS1, PM2 codes)

ユースケース

01Identifying LoF-intolerant genes for prioritization in research studies

02Filtering common benign variants during rare disease clinical diagnosis

03Comparing allele frequency differences across global populations for genetic research