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Genome

Catalog entries using this tag (links open the entry card on its page):

Entries

gnomAD v2.1 — Exome + Genome expansion

v2.1 Exome Genome Population Reference
STAGE_PERIOD
2017–2019
DESCRIPTION
Rebranded to Genome Aggregation Database (gnomAD) with broadened scope. gnomAD v2.1 released 125,748 exomes and 15,708 genomes — a massive expansion over ExAC. Introduced population-specific allele frequency data across multiple ancestral groups and provided the most comprehensive catalog of human genetic variation to date.
URL
https://gnomad.broadinstitute.org/

gnomAD v4 — Massive multi-ancestry expansion

v4 Multi-ancestry Exome Genome Constraint Diversity
STAGE_PERIOD
2023–2024
DESCRIPTION
gnomAD v4 dramatically expanded to 807,098 exomes and 76,215 genomes, with substantially improved ancestral diversity. v4 included >30 genetic ancestry groups, enabling more precise population-specific allele frequency estimates. New constraint metrics across diverse ancestries and improved structural variant calls made this the most comprehensive human variation resource ever created.
URL
https://gnomad.broadinstitute.org/