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Article

Calibrated rare variant genetic risk scores for complex disease prediction using large exome sequence repositories.

Nature communications - 6 Oct 2021

Lali Ricky, Chong Michael, Omidi Arghavan, Mohammadi-Shemirani Pedrum, Le Ann, Cui Edward, Paré Guillaume

Abstract excerpt

Rare variants are collectively numerous and may underlie a considerable proportion of complex disease risk. However, identifying genuine rare variant associations is challenging due to small effect sizes, presence of technical artefacts, and heterogeneity in population structure. We hypothesize that rare variant burden over a large number of genes can be combined into a predictive rare variant genetic risk score...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 34615865
DOI: 10.1038/s41467-021-26114-0
PMCID: PMC8494733

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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