Article

Integrating 730,947 exome sequences with clinical literature improves gene discovery

2026-03-25

Abstract excerpt

Accurate estimates of allele frequencies aid in genetic discovery, including rare disease diagnosis, common disease investigations, and population genetics. Here, we present the Genome Aggregation Database version 4 (gnomAD v4), including 730,947 with exome sequences, a fivefold increase over previous releases. We demonstrate that statistical power to detect strong selective constraint continues to increase with s...

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Literature Corpus work: 91bf7120-e533-5ae3-99dc-93b34321407c
DOI: 10.64898/2026.03.23.26349081

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