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Article

Meta-analysis across six global biobanks identifies recessive coding associations with complex traits and diseases.

American journal of human genetics - 4 Jun 2026

Lassen Frederik H, Kalantzis Georgios, Eoli Andrea, Hill Barney, Sonehara Kyuto, Namba Shinichi, Wade Isaac, Hodgson Sam, Zhou Wei, Neale Benjamin M, Karczewski Konrad J, Okada Yukinori, van Heel David A, Finer Sarah, Lindgren Cecilia M, Heyne Henrike O, Martin Hilary C, Palmer Duncan S

Abstract excerpt

Rare bi-allelic variation is a major contributor to human disease risk, yet its effects are difficult to study at scale in population cohorts owing to the limited number of individuals with putatively deleterious bi-allelic genotypes and the challenges of accurately phasing low-frequency variants. Here, we present recessive, gene-based analyses of rare and low-frequency variants in up to 948,690 exome- or...

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Identifiers

PMID: 42068978
DOI: 10.1016/j.ajhg.2026.04.005
PMCID: PMC13277689

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HBB
LECT2
MAF

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