Article

Rare-variant risk scores complement common-variant polygenic scores for disease risk prediction and stratification

2026-06-29

Abstract excerpt

Polygenic risk scores (PRSs), which aggregate genetic effects across the genome, are typically constructed from common variants and therefore do not capture a substantial component of rare genetic variation. Using whole-genome sequencing data from the UK Biobank, we develop and benchmark rare-variant PRSs (rvPRSs) across 31 complex traits and 464 disease endpoints. Although rvPRSs provide only modest average impro...

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Literature Corpus work: 5784b37d-839e-5c95-9da6-8ed2b68ef025
DOI: 10.64898/2026.06.21.26356150

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