db-gnomad

What problem does it solve?

This Skill provides access to the Genome Aggregation Database (gnomAD) to help interpret the pathogenicity of genetic variants by querying population allele frequencies, variant constraint scores, and loss-of-function intolerance metrics.

Core Features & Use Cases

• Variant Frequency Lookup: Determine if a variant is rare or common across diverse populations.
• Gene Constraint Analysis: Assess a gene's tolerance to loss-of-function or missense variation using pLI and LOEUF scores.
• Pathogenicity Interpretation: Aid in variant classification by leveraging gnomAD data for ACMG criteria.
• Use Case: Given a rare variant identified in a patient, use this Skill to check its allele frequency in gnomAD across different ancestries and to evaluate the constraint of the affected gene to understand its potential impact.

Quick Start

Query gnomAD for the gene symbol BRCA1 to retrieve its variants and constraint scores.