The UK10K project identifies rare variants in health and disease

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, Bala, Senduran, Clapham, Peter, Coates, Guy, Cox, Tony, Daly, Allan, Danecek, Petr, Du, Yuanping, Durbin, Richard, Edkins, Sarah, Ellis, Peter, Flicek, Paul, Guo, Xiaosen, Guo, Xueqin, Huang, Liren, Jackson, David K., Joyce, Chris, Keane, Thomas, Kolb-Kokocinski, Anja, Langford, Cordelia, Li, Yingrui, Liang, Jieqin, Lin, Hong, Liu, Ryan, Maslen, John, McCarthy, Shane, Muddyman, Dawn, Quail, Michael A., Stalker, Jim, Sun, Jianping, Tian, Jing, Wang, Guangbiao, Wang, Jun, Wang, Yu, Wong, Kim, Zhang, Pingbo, Barroso, Inês, Birney, Ewan, Boustred, Chris, Chen, Lu, Clement, Gail, Cocca, Massimiliano, Danecek, Petr, Davey Smith, George, Day, Ian N. M., Day-Williams, Aaron, Down, Thomas, Dunham, Ian, Durbin, Richard, Evans, David M., Gaunt, Tom R., Geihs, Matthias, Greenwood, Celia M. T., Hart, Deborah, Hendricks, Audrey E., Howie, Bryan, Huang, Jie, Hubbard, Tim, Hysi, Pirro, Iotchkova, Valentina, Jamshidi, Yalda, Karczewski, Konrad J., Kemp, John P., Lachance, Genevieve, Lawson, Daniel, Lek, Monkol, Lopes, Margarida, MacArthur, Daniel G., Marchini, Jonathan, Mangino, Massimo, Mathieson, Iain, McCarthy, Shane, Memari, Yasin, Metrustry, Sarah, Min, Josine L., Moayyeri, Alireza, Muddyman, Dawn, Northstone, Kate, Panoutsopoulou, Kalliope, Paternoster, Lavinia, Perry, John R. B., Quaye, Lydia, Richards, J. Brent, Ring, Susan, Ritchie, Graham R. S., Schiffels, Stephan, Shihab, Hashem A., Shin, So-Youn, Small, Kerrin S., Soler Artigas, María, Soranzo, Nicole, Southam, Lorraine, Spector, Timothy D., St Pourcain, Beate, Surdulescu, Gabriela, Tachmazidou, Ioanna, Timpson, Nicholas J., Tobin, Martin D., Valdes, Ana M., Visscher, Peter M., Wain, Louise V., Walter, Klaudia, Ward, Kirsten, Wilson, Scott G., Wong, Kim, Yang, Jian, Zeggini, Eleftheria, Zhang, Feng, Zheng, Hou-Feng, Anney, Richard ORCID: https://orcid.org/0000-0002-6083-407X, Ayub, Muhammad, Barrett, Jeffrey C., Blackwood, Douglas, Bolton, Patrick F., Breen, Gerome, Collier, David A., Craddock, Nick ORCID: https://orcid.org/0000-0003-2171-0610, Crooks, Lucy, Curran, Sarah, Curtis, David, Durbin, Richard, Gallagher, Louise, Geschwind, Daniel, Gurling, Hugh, Holmans, Peter ORCID: https://orcid.org/0000-0003-0870-9412, Lee, Irene, Lönnqvist, Jouko, McCarthy, Shane, McGuffin, Peter, McIntosh, Andrew M., McKechanie, Andrew G., McQuillin, Andrew, Morris, James, Muddyman, Dawn, O'Donovan, Michael C. ORCID: https://orcid.org/0000-0001-7073-2379, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Palotie, Aarno, Parr, Jeremy R., Paunio, Tiina, Pietilainen, Olli, Rehnström, Karola, Sharp, Sally I., Skuse, David, St Clair, David, Suvisaari, Jaana, Walters, James T. R. ORCID: https://orcid.org/0000-0002-6980-4053, Williams, Hywel J., Barroso, Inês, Bochukova, Elena, Bounds, Rebecca, Dominiczak, Anna, Durbin, Richard, Farooqi, I. Sadaf, Hendricks, Audrey E., Keogh, Julia, Marenne, Gaëlle, McCarthy, Shane, Morris, Andrew, Muddyman, Dawn, O'Rahilly, Stephen, Porteous, David J., Smith, Blair H., Tachmazidou, Ioanna, Wheeler, Eleanor, Zeggini, Eleftheria, Al Turki, Saeed, Anderson, Carl A., Antony, Dinu, Barroso, Inês, Beales, Phil, Bentham, Jamie, Bhattacharya, Shoumo, Calissano, Mattia, Carss, Keren, Chatterjee, Krishna, Cirak, Sebahattin, Cosgrove, Catherine, Durbin, Richard, Fitzpatrick, David R., Floyd, James, Foley, A. Reghan, Franklin, Christopher S., Futema, Marta, Grozeva, Detelina ORCID: https://orcid.org/0000-0003-3239-8415, Humphries, Steve E., Hurles, Matthew E., McCarthy, Shane, Mitchison, Hannah M., Muddyman, Dawn, Muntoni, Francesco, O'Rahilly, Stephen, Onoufriadis, Alexandros, Parker, Victoria, Payne, Felicity, Plagnol, Vincent, Raymond, F. Lucy, Roberts, Nicola, Savage, David B., Scambler, Peter, Schmidts, Miriam, Schoenmakers, Nadia, Semple, Robert K., Serra, Eva, Spasic-Boskovic, Olivera, Stevens, Elizabeth, van Kogelenberg, Margriet, Vijayarangakannan, Parthiban, Walter, Klaudia, Williamson, Kathleen A., Wilson, Crispian, Whyte, Tamieka, Ciampi, Antonio, Greenwood, Celia M. T., Hendricks, Audrey E., Li, Rui, Metrustry, Sarah, Oualkacha, Karim, Tachmazidou, Ioanna, Xu, ChangJiang, Zeggini, Eleftheria, Bobrow, Martin, Bolton, Patrick F., Durbin, Richard, Fitzpatrick, David R., Griffin, Heather, Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Kent, Alastair, Muddyman, Dawn, Muntoni, Francesco, Raymond, F. Lucy, Semple, Robert K., Smee, Carol, Spector, Timothy D., Timpson, Nicholas J., Charlton, Ruth, Ekong, Rosemary, Futema, Marta, Humphries, Steve E., Khawaja, Farrah, Lopes, Luis R., Migone, Nicola, Payne, Stewart J., Plagnol, Vincent, Pollitt, Rebecca C., Povey, Sue, Ridout, Cheryl K., Robinson, Rachel L., Scott, Richard H., Shaw, Adam, Syrris, Petros, Taylor, Rohan, Vandersteen, Anthony M., Barrett, Jeffrey C., Barroso, Inês, Davey Smith, George, Durbin, Richard, Farooqi, I. Sadaf, Fitzpatrick, David R., Hurles, Matthew E., Kaye, Jane, Kennedy, Karen, Langford, Cordelia, McCarthy, Shane, Muddyman, Dawn, Owen, Michael J. ORCID: https://orcid.org/0000-0003-4798-0862, Palotie, Aarno, Richards, J. Brent, Soranzo, Nicole, Spector, Timothy D., Stalker, Jim, Timpson, Nicholas J., Zeggini, Eleftheria, Amuzu, Antoinette, Pablo Casas, Juan, Chambers, John C., Cocca, Massimiliano, Dedoussis, George, Gambaro, Giovanni, Gasparini, Paolo, Gaunt, Tom R., Huang, Jie, Iotchkova, Valentina, Isaacs, Aaron, Johnson, Jon, Kleber, Marcus E., Kooner, Jaspal S., Langenberg, Claudia, Luan, Jian'an, Malerba, Giovanni, März, Winfried, Matchan, Angela, Min, Josine L., Morris, Richard, Nordestgaard, Børge G., Benn, Marianne, Ring, Susan, Scott, Robert A., Soranzo, Nicole, Southam, Lorraine, Timpson, Nicholas J., Toniolo, Daniela, Traglia, Michela, Tybjaerg-Hansen, Anne, van Duijn, Cornelia M., van Leeuwen, Elisabeth M., Varbo, Anette, Whincup, Peter, Zaza, Gianluigi, Zeggini, Eleftheria and Zhang, Weihua 2015. The UK10K project identifies rare variants in health and disease. Nature 526 , pp. 82-90. 10.1038/nature14962

Full text not available from this repository.

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.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Neuroscience and Mental Health Research Institute (NMHRI) Medicine MRC Centre for Neuropsychiatric Genetics and Genomics (CNGG)
Subjects:	R Medicine > R Medicine (General)
Publisher:	Nature
ISSN:	0028-0836
Date of Acceptance:	17 July 2015
Last Modified:	31 Oct 2022 09:24
URI:	https://orca.cardiff.ac.uk/id/eprint/80930

Citation Data

Cited 631 times in Scopus. View in Scopus. Powered By Scopus® Data

Actions (repository staff only)

Edit Item