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...

Descripció completa

Dades bibliogràfiques

Autors principals:	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
Format:	Artigo
Idioma:	Inglês
Publicat:	Elsevier 2024-07-01
Col·lecció:	Cell Genomics
Matèries:	recessive bi-allelic compound heterozygosity population genetics phasing longtudinal
Accés en línia:	http://www.sciencedirect.com/science/article/pii/S2666979X24001964
Etiquetes:	Afegir etiqueta Sense etiquetes, Sigues el primer a etiquetar aquest registre!