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Genome Aggregation Database (gnomAD)

Definition
AI-generated

gnomAD is a large public resource that aggregates exome and genome sequencing data to provide high-resolution allele-frequency estimates and variant annotations across diverse ancestry groups.

Topics
Cohorts and databases
Synonyms
Genome Aggregation Database
URL
https://gnomad.broadinstitute.org/
Related
Allele Frequency Genotype Genome-Wide Association Study (GWAS)

Why it matters in GWAS

gnomAD helps interpret rarity, supports variant filtering and quality checks, and provides population-aware frequency context that improves downstream interpretation of GWAS signals.

Example usage

"We flagged coding variants with very low gnomAD frequency as candidates for follow-up."

Allele Frequency Genotype Genome-Wide Association Study (GWAS) Reference Allele
Related-term network

Click any node to open that term page.

Node order. The current term is first. Next come every page linked from Related terms, in the same top-to-bottom order as that list. Then new terms appear in two-hop layers: for each of those direct neighbors (in that same order), their related terms are appended if not already listed. A third pass does the same for two-hop nodes. The walk stops when a fixed maximum number of nodes is reached.

References

  • Karczewski KJ, et al. (2020). The mutational constraint spectrum quantified from variation in 141,456 humans. Nature.
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