Article

Rare coding and noncoding variants map 1,342 diseases and biomarkers in 490,549 whole genomes

2026-03-26

Abstract excerpt

Rare genetic variants are increasingly recognized as important contributors to human trait architecture, with noncoding variants accounting for a substantial portion of the heritability. These variants tend to be less polygenic and more biologically specific than common variants, remaining understudied across large biobanks. Here we analyzed whole genome sequencing (WGS) data from up to 490,549 UK Biobank particip...

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Literature Corpus work: 9979f84b-76b0-5a36-96f7-0b106294625c
DOI: 10.64898/2026.03.24.26349148

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