Article

A spectrum of recessiveness among Mendelian disease variants in UK Biobank

2021-12-14

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 3,481 rare variants curated from ClinVar and OMIM. Testing these variants for association with 57 quantitative traits yielded 103 significant association...

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Literature Corpus work: 191f89c6-24f2-506a-9b3a-bdf61e7a9d1a
DOI: 10.1101/2021.12.13.21267756

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