Details

Autor(en) / Beteiligte

• Walter, Klaudia
• Min, Josine L
• Huang, Jie
• Crooks, Lucy
• Memari, Yasin
• McCarthy, Shane
• Perry, John R B
• Xu, ChangJiang
• Futema, Marta
• Lawson, Daniel
• Iotchkova, Valentina
• Schiffels, Stephan
• Hendricks, Audrey E
• Danecek, Petr
• Li, Rui
• Floyd, James
• Wain, Louise V
• Barroso, Inês
• Humphries, Steve E
• Hurles, Matthew E
• Zeggini, Eleftheria
• Barrett, Jeffrey C
• Plagnol, Vincent
• Richards, J Brent
• Greenwood, Celia M T
• Timpson, Nicholas J
• Durbin, Richard
• Soranzo, Nicole

Titel

The UK10K project identifies rare variants in health and disease

Ist Teil von

• Nature (London), 2015-10, Vol.526 (7571), p.82-90

Ort / Verlag

England: Nature Publishing Group

Erscheinungsjahr

2015

Quelle

EBSCOhost Psychology and Behavioral Sciences Collection

Beschreibungen/Notizen

• The contribution of rare and low-frequency variants to human traits is largely unexplored. Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes (high read depth, 80×) of nearly 10,000 individuals from population-based and disease collections. In extensively phenotyped cohorts we characterize over 24 million novel sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of triglycerides (APOB), adiponectin (ADIPOQ) and low-density lipoprotein cholesterol (LDLR and RGAG1) from single-marker and rare variant aggregation tests. We describe population structure and functional annotation of rare and low-frequency variants, use the data to estimate the benefits of sequencing for association studies, and summarize lessons from disease-specific collections. Finally, we make available an extensive resource, including individual-level genetic and phenotypic data and web-based tools to facilitate the exploration of association results.