gnomAD

gnomAD aggregates and analyzes high-quality human exome sequencing data from 60,706 individuals to provide a reference of human genetic variation and insights into protein-coding regions.

Key Features:

• Extensive Data Compilation: Compiles exome sequence data with an average variant frequency of one every eight bases in the exome across 60,706 individuals.
• Diverse Ancestry Representation: Includes individuals from diverse ancestries to represent global population variation.
• Pathogenicity Metrics: Provides objective metrics for assessing the pathogenic potential of sequence variants.
• Gene Selection Analysis: Identifies genes under strong selective pressure, reporting 3,230 genes with near-complete depletion of predicted protein-truncating variants, of which 72% lack an established association with human disease phenotypes.

Scientific Applications:

• Medical Interpretation: Serves as a reference for interpreting DNA sequence changes in clinical and research settings.
• Disease Research: Aids in filtering candidate disease-causing variants to prioritize variants for further study.
• Functional Genomics: Supports discovery of human "knockout" variants in protein-coding genes to investigate gene function.

Methodology:

Aggregates high-quality exome sequencing data and provides analytical outputs including calculation of pathogenicity metrics and identification of genes subject to evolutionary selection pressures.