gnomAD
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Technical Summary
The Genome Aggregation Database (gnomAD) is a resource developed by an international coalition of investigators, with the goal of aggregating and harmonizing both exome and genome sequencing data from a wide variety of large-scale sequencing projects.
Key Capabilities
- Massive Aggregation: Contains data from over 800,000 exomes and genomes from unrelated individuals sequenced as part of various disease-specific and population genetic studies.
- Variant Interpretation: Acts as the gold-standard reference for allele frequencies in the general population, which is essential for filtering out common benign variants when diagnosing rare genetic disorders.
- Gene Constraint Metrics: Computes metrics like pLI and LOEUF to indicate a gene’s intolerance to loss-of-function variants, helping prioritize candidate genes in clinical genomics.
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Intended Use Cases
Estimating allele frequencies for rare diseases, identifying loss-of-function intolerance in genes, and establishing a baseline for healthy human genetic variation.