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Article

A method to estimate the contribution of rare coding variants to complex trait heritability.

Nature communications - 9 Feb 2024

Pathan Nazia, Deng Wei Q, Di Scipio Matteo, Khan Mohammad, Mao Shihong, Morton Robert W, Lali Ricky, Pigeyre Marie, Chong Michael R, Paré Guillaume

Abstract excerpt

It has been postulated that rare coding variants (RVs; MAF < 0.01) contribute to the "missing" heritability of complex traits. We developed a framework, the Rare variant heritability (RARity) estimator, to assess RV heritability (h2RV) without assuming a particular genetic architecture. We applied RARity to 31 complex traits in the UK Biobank (n = 167,348) and showed that gene-level RV aggregation suffers from...

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PMID: 38336875
DOI: 10.1038/s41467-024-45407-8
PMCID: PMC10858280

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