Article

The Biobank Rare Variant consortium powers the discovery of rare genetic associations through global collaboration

2026-05-24

Abstract excerpt

Rare coding variants can have large effects on disease risk and provide direct routes from human genetics to disease mechanisms and therapeutic targets, but their discovery is constrained by sample size, particularly for low-prevalence diseases. Here we establish the Biobank Rare Variant Analysis (BRaVa) consortium, a global rare variant association resource that integrates sequencing and linked health-record data...

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Literature Corpus work: 38a295b4-7fb1-54f8-bd9c-bc031a6845ca
DOI: 10.64898/2026.05.21.26353759

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