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Nature. 2015 Oct 1;526(7571):82-90. doi: 10.1038/nature14962. Epub 2015 Sep 14.

The UK10K project identifies rare variants in health and disease.

Collaborators (321)

Walter K, Min JL, Huang J, Crooks L, Memari Y, McCarthy S, Perry JR, Xu C, Futema M, Lawson D, Iotchkova V, Schiffels S, Hendricks AE, Danecek P, Li R, Floyd J, Wain LV, Barroso I, Humphries SE, Hurles ME, Zeggini E, Barrett JC, Plagnol V, Richards JB, Greenwood CM, Timpson NJ, Durbin R, Soranzo N, Bala S, Clapham P, Coates G, Cox T, Daly A, Danecek P, Du Y, Durbin R, Edkins S, Ellis P, Flicek P, Guo X, Guo X, Huang L, Jackson DK, Joyce C, Keane T, Kolb-Kokocinski A, Langford C, Li Y, Liang J, Lin H, Liu R, Maslen J, McCarthy S, Muddyman D, Quail MA, Stalker J, Sun J, Tian J, Wang G, Wang J, Wang Y, Wong K, Zhang P, Barroso I, Birney E, Boustred C, Chen L, Clement G, Cocca M, Danecek P, Davey Smith G, Day IN, Day-Williams A, Down T, Dunham I, Durbin R, Evans DM, Gaunt TR, Geihs M, Greenwood CM, Hart D, Hendricks AE, Howie B, Huang J, Hubbard T, Hysi P, Iotchkova V, Jamshidi Y, Karczewski KJ, Kemp JP, Lachance G, Lawson D, Lek M, Lopes M, MacArthur DG, Marchini J, Mangino M, Mathieson I, McCarthy S, Memari Y, Metrustry S, Min JL, Moayyeri A, Muddyman D, Northstone K, Panoutsopoulou K, Paternoster L, Perry JR, Quaye L, Richards JB, Ring S, Ritchie GR, Schiffels S, Shihab HA, Shin SY, Small KS, Soler Artigas M, Soranzo N, Southam L, Spector TD, St Pourcain B, Surdulescu G, Tachmazidou I, Timpson NJ, Tobin MD, Valdes AM, Visscher PM, Wain LV, Walter K, Ward K, Wilson SG, Wong K, Yang J, Zeggini E, Zhang F, Zheng HF, Anney R, Ayub M, Barrett JC, Blackwood D, Bolton PF, Breen G, Collier DA, Craddock N, Crooks L, Curran S, Curtis D, Durbin R, Gallagher L, Geschwind D, Gurling H, Holmans P, Lee I, Lönnqvist J, McCarthy S, McGuffin P, McIntosh AM, McKechanie AG, McQuillin A, Morris J, Muddyman D, O'Donovan MC, Owen MJ, Palotie A, Parr JR, Paunio T, Pietilainen O, Rehnström K, Sharp SI, Skuse D, St Clair D, Suvisaari J, Walters JT, Williams HJ, Barroso I, Bochukova E, Bounds R, Dominiczak A, Durbin R, Farooqi IS, Hendricks AE, Keogh J, Marenne G, McCarthy S, Morris A, Muddyman D, O'Rahilly S, Porteous DJ, Smith BH, Tachmazidou I, Wheeler E, Zeggini E, Al Turki S, Anderson CA, Antony D, Barroso I, Beales P, Bentham J, Bhattacharya S, Calissano M, Carss K, Chatterjee K, Cirak S, Cosgrove C, Durbin R, Fitzpatrick DR, Floyd J, Foley AR, Franklin CS, Futema M, Grozeva D, Humphries SE, Hurles ME, McCarthy S, Mitchison HM, Muddyman D, Muntoni F, O'Rahilly S, Onoufriadis A, Parker V, Payne F, Plagnol V, Raymond FL, Roberts N, Savage DB, Scambler P, Schmidts M, Schoenmakers N, Semple RK, Serra E, Spasic-Boskovic O, Stevens E, van Kogelenberg M, Vijayarangakannan P, Walter K, Williamson KA, Wilson C, Whyte T, Ciampi A, Greenwood CM, Hendricks AE, Li R, Metrustry S, Oualkacha K, Tachmazidou I, Xu C, Zeggini E, Bobrow M, Bolton PF, Durbin R, Fitzpatrick DR, Griffin H, Hurles ME, Kaye J, Kennedy K, Kent A, Muddyman D, Muntoni F, Raymond FL, Semple RK, Smee C, Spector TD, Timpson NJ, Charlton R, Ekong R, Futema M, Humphries SE, Khawaja F, Lopes LR, Migone N, Payne SJ, Plagnol V, Pollitt RC, Povey S, Ridout CK, Robinson RL, Scott RH, Shaw A, Syrris P, Taylor R, Vandersteen AM, Barrett JC, Barroso I, Davey Smith G, Durbin R, Farooqi IS, Fitzpatrick DR, Hurles ME, Kaye J, Kennedy K, Langford C, McCarthy S, Muddyman D, Owen MJ, Palotie A, Richards JB, Soranzo N, Spector TD, Stalker J, Timpson NJ, Zeggini E, Toniolo D, Traglia M, Tybjaerg-Hansen A, van Duijn CM, van Leeuwen EM, Varbo A, Whincup P, Zaza G, Zeggini E, Zhang W, Toniolo D, Traglia M, Tybjaerg-Hansen A, van Duijn CM, van Leeuwen EM, Varbo A, Whincup P, Zaza G, Zeggini E, Zhang W.

Abstract

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.

PMID:
26367797
PMCID:
PMC4773891
DOI:
10.1038/nature14962
[Indexed for MEDLINE]
Free PMC Article

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