Exome-wide evidence of compound heterozygous effects across common phenotypes in the UK Biobank

Summary: The phenotypic impact of compound heterozygous (CH) variation has not been investigated at the population scale. We phased rare variants (MAF ∼0.001%) in the UK Biobank (UKBB) exome-sequencing data to characterize recessive effects in 175,587 individuals across 311 common diseases. A total...

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Үндсэн зохиолчид:	Frederik H. Lassen, Samvida S. Venkatesh, Nikolas Baya, Barney Hill, Wei Zhou, Alex Bloemendal, Benjamin M. Neale, Benedikt M. Kessler, Nicola Whiffin, Cecilia M. Lindgren, Duncan S. Palmer
Формат:	Artigo
Хэл сонгох:	Inglês
Хэвлэсэн:	Elsevier 2024-07-01
Цуврал:	Cell Genomics
Нөхцлүүд:	recessive bi-allelic compound heterozygosity population genetics phasing longtudinal
Онлайн хандалт:	http://www.sciencedirect.com/science/article/pii/S2666979X24001964
Шошгууд:	Шошго нэмэх Шошго байхгүй, Энэхүү баримтыг шошголох эхний хүн болох!