A spectrum of recessiveness among Mendelian disease variants in UK Biobank
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 Cli...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Cell Press
2022
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| Subjects: | |
| Online Access: | View Fulltext in Publisher |