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Article

A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

American journal of human genetics - 7 Jul 2022

Barton Alison R, Hujoel Margaux L A, Mukamel Ronen E, Sherman Maxwell A, Loh Po-Ru

Abstract excerpt

Recent work has found increasing evidence of mitigated, incompletely penetrant phenotypes in heterozygous carriers of recessive Mendelian disease variants. We leveraged whole-exome imputation within the full UK Biobank cohort (n ∼ 500K) to extend such analyses to 3,475 rare variants curated from ClinVar and OMIM. Testing these variants for association with 58 quantitative traits yielded 102 significant...

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Identifiers

PMID: 35649421
DOI: 10.1016/j.ajhg.2022.05.008
PMCID: PMC9300759

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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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