The UK10K project identifies rare variants in health and disease

Nature

Volumn 526, Issue 7571, 2015, Pages 82-89

  Walter, Klaudia ^a   Min, Josine L ^c   Huang, Jie ^a   Crooks, Lucy ^a,d   Memari, Yasin ^a   McCarthy, Shane ^a   Perry, John R B ^e,f   Xu, Changjiang ^g,h   Futema, Marta ⁱ   Lawson, Daniel ^c   Iotchkova, Valentina ^a   Schiffels, Stephan ^a   Hendricks, Audrey E ^a,j   Danecek, Petr ^a   Li, Rui ^g,h,k   Floyd, James ^a,l   Wain, Louise V ^m   Barroso, Inês ^a,b   Humphries, Steve E ⁱ   Hurles, Matthew E ^a   Zeggini, Eleftheria ^a   Barrett, Jeffrey C ^a   Plagnol, Vincent ⁱ   Richards, J Brent ^e,g,h,k   Greenwood, Celia M T ^g,h   Timpson, Nicholas J ^c   Durbin, Richard ^a   Bala, Senduran ^a   Clapham, Peter ^a   Coates, Guy ^a   Cox, Tony ^a   Daly, Allan ^a   Du, Yuanping ⁿ   Edkins, Sarah ^a   Ellis, Peter ^a   Flicek, Paul ^a   Guo, Xiaosen ^n,o   Guo, Xueqin ⁿ   Huang, Liren ⁿ   Jackson, David K ^a   Joyce, Chris ^a   Keane, Thomas ^a   Kolb Kokocinski, Anja ^a   Langford, Cordelia ^a   Li, Yingrui ⁿ   Liang, Jieqin ⁿ   Lin, Hong ⁿ   Liu, Ryan ^p   Maslen, John ^a   Muddyman, Dawn ^a   Quail, Michael A ^a   Stalker, Jim ^a   Sun, Jianping ^g,h   Tian, Jing ⁿ   Wang, Guangbiao ⁿ   Wang, Jun ^n,o,q,r,s   Wang, Yu ⁿ   Wong, Kim ^a   Zhang, Pingbo ⁿ   Birney, Ewan ^a   Boustred, Chris ^t   Chen, Lu ^a,b   Clement, Gail ^e   Cocca, Massimiliano ^u,v   Smith, George Davey ^c   Day, Ian N M ^c   Day Williams, Aaron ^a,w   Down, Thomas ^a,x   Dunham, Ian ^a   Evans, David M ^c,y   Gaunt, Tom R ^c   Geihs, Matthias ^a   Hart, Deborah ^e   Howie, Bryan ^z   Hubbard, Tim ^a,x   Hysi, Pirro ^e   Jamshidi, Yalda ^aa   Karczewski, Konrad J ^ab,ac   Kemp, John P ^c,y   Lachance, Genevieve ^e   Lek, Monkol ^ab   Lopes, Margarida ^a,ad,ae   MacArthur, Daniel G ^ab,ac   Marchini, Jonathan ^ad,af   Mangino, Massimo ^e,ag   Mathieson, Iain ^ah   Metrustry, Sarah ^e   Moayyeri, Alireza ^e,i   Northstone, Kate ^c   Panoutsopoulou, Kalliope ^a   Paternoster, Lavinia ^c   Quaye, Lydia ^e   Ring, Susan ^c   Ritchie, Graham R S ^a   Shihab, Hashem A ^c   Shin, So Youn ^a,c   Small, Kerrin S ^e   Artigas, María Soler ^m   Soranzo, Nicole ^a,b   Southam, Lorraine ^a,ad   Spector, Timothy D ^e   St Pourcain, Beate ^c   Surdulescu, Gabriela ^e   Tachmazidou, Ioanna ^a   Tobin, Martin D ^m,ai   Valdes, Ana M ^e   Visscher, Peter M ^y   Ward, Kirsten ^e   Wilson, Scott G ^e,aj,ak   Yang, Jian ^y   Zhang, Feng ^e   Zheng, Hou Feng ^g,h,k   Anney, Richard ^al   Ayub, Muhammad ^am   Blackwood, Douglas ^an   Bolton, Patrick F ^e,ao,ap   Breen, Gerome ^ao,ap   Collier, David A ^ap,aq   Craddock, Nick ^ar   Curran, Sarah ^e,as,at   Curtis, David ⁱ   Gallagher, Louise ^al   Geschwind, Daniel ^au   Gurling, Hugh ⁱ   Holmans, Peter ^ar   Lee, Irene ^av   Lönnqvist, Jouko ^aw   McGuffin, Peter ^ap   McIntosh, Andrew M ^an   McKechanie, Andrew G ^an,ax   McQuillin, Andrew ⁱ   Morris, James ^a   O'Donovan, Michael C ^ar   Owen, Michael J ^ar   Palotie, Aarno ^a,ac,ay   Parr, Jeremy R ^az   Paunio, Tiina ^aw,ay   Pietilainen, Olli ^a,aw,ay   Rehnström, Karola ^a   Sharp, Sally I ⁱ   Skuse, David ^av   St Clair, David ^ba   Suvisaari, Jaana ^aw   Walters, James T R ^ar   Williams, Hywel J ^ar,av   Bochukova, Elena ^b   Bounds, Rebecca ^b   Dominiczak, Anna ^bb   Farooqi, I Sadaf ^b   Keogh, Julia ^b   Marenne, Gaëlle ^a   Morris, Andrew ^ax   O'Rahilly, Stephen ^b   Porteous, David J ^an   Smith, Blair H ^bc   Wheeler, Eleanor ^a   Al Turki, Saeed ^a,bd   Anderson, Carl A ^a   Antony, Dinu ^av   Beales, Phil ^av   Bentham, Jamie ^ad   Bhattacharya, Shoumo ^ad   Calissano, Mattia ^av   Carss, Keren ^a   Chatterjee, Krishna ^b   Cirak, Sebahattin ^av,be   Cosgrove, Catherine ^ad   Fitzpatrick, David R ^bf   Foley, A Reghan ^av   Franklin, Christopher S ^a   Grozeva, Detelina ^bg   Mitchison, Hannah M ^av   Muntoni, Francesco ^av   Onoufriadis, Alexandros ^x   Parker, Victoria ^b   Payne, Felicity ^a   Raymond, F Lucy ^bg   Roberts, Nicola ^bg   Savage, David B ^b   Scambler, Peter ^av   Schmidts, Miriam ^av,bh   Schoenmakers, Nadia ^b   Semple, Robert K ^b   Serra, Eva ^a   Spasic Boskovic, Olivera ^bg   Stevens, Elizabeth ^av   Van Kogelenberg, Margriet ^a   Vijayarangakannan, Parthiban ^a   Williamson, Kathleen A ^bf   Wilson, Crispian ^bg   Whyte, Tamieka ^av   Ciampi, Antonio ^h   Oualkacha, Karim ^bi   Bobrow, Martin ^bg   Griffin, Heather ^bj   Kaye, Jane ^bj   Kennedy, Karen ^a,bk   Kent, Alastair ^bl   Smee, Carol ^a   Charlton, Ruth ^bm   Ekong, Rosemary ⁱ   Khawaja, Farrah ^aa   Lopes, Luis R ^i,bn   Migone, Nicola ^bo   Payne, Stewart J ^bp   Pollitt, Rebecca C ^d   Povey, Sue ⁱ   Ridout, Cheryl K ^x   Robinson, Rachel L ^bm   Scott, Richard H ^av,bq   Shaw, Adam ^ag   Syrris, Petros ⁱ   Taylor, Rohan ^aa   Vandersteen, Anthony M ^br   Amuzu, Antoinette ^bs   Casas, Juan Pablo ^i,bs   Chambers, John C ^bt   Dedoussis, George ^bu   Gambaro, Giovanni ^bv   Gasparini, Paolo ^u,v,bw   Isaacs, Aaron ^bx   Johnson, Jon ^by   Kleber, Marcus E ^bz   Kooner, Jaspal S ^ca   Langenberg, Claudia ^f   Luan, Jian'an ^f   Malerba, Giovanni ^cb   März, Winfried ^cc,cd,ce   Matchan, Angela ^a   Morris, Richard ^cf   Nordestgaard, Børge G ^cg,ch   Benn, Marianne ^cg,ch   Scott, Robert A ^f   Toniolo, Daniela ^ci   Traglia, Michela ^ci   Tybjaerg Hansen, Anne ^ch,cj   Van Duijn, Cornelia M ^bx   Van Leeuwen, Elisabeth M ^bx   Varbo, Anette ^cg,ch   Whincup, Peter ^aa   Zaza, Gianluigi ^ck   Zhang, Weihua ^bt   more..

^a WELLCOME TRUST SANGER INSTITUTE   (United Kingdom)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF BRISTOL   (United Kingdom)

^d SHEFFIELD CHILDREN'S NHS FOUNDATION TRUST   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

^f UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^g MCGILL UNIVERSITY   (Canada)

^h MCGILL UNIVERSITY   (Canada)

ⁱ UNIVERSITY COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY OF COLORADO   (United States)

^k MCGILL UNIVERSITY   (Canada)

^l QUEEN MARY UNIVERSITY OF LONDON   (United Kingdom)

^m UNIVERSITY OF LEICESTER   (United Kingdom)

ⁿ BGI SHENZHEN   (China)

^o UNIVERSITY OF COPENHAGEN   (Denmark)

^p BGI Europe   (United Kingdom)

^q KING ABDULAZIZ UNIVERSITY   (Saudi Arabia)

^r MACAU UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Macao)

^s UNIVERSITY OF HONG KONG   (Hong Kong)

^t Hospital for Children NHS Foundation Trust   (United Kingdom)

^u INSTITUTE FOR MATERNAL AND CHILD HEALTH IRCCS BURLO GAROFOLO   (Italy)

^v UNIVERSITY OF TRIESTE   (Italy)

^w BIOGEN   (United States)

^x GUY S HOSPITAL   (United Kingdom)

^y UNIVERSITY OF QUEENSLAND   (Australia)

^z ADAPTIVE BIOTECHNOLOGIES   (United States)

^aa ST GEORGE'S UNIVERSITY OF LONDON   (United Kingdom)

^ab MASSACHUSETTS GENERAL HOSPITAL   (United States)

^ac BROAD INSTITUTE OF MIT AND HARVARD   (United States)

^ad UNIVERSITY OF OXFORD   (United Kingdom)

^ae ILLUMINA INC   (United States)

^af UNIVERSITY OF OXFORD   (United Kingdom)

^ag GUY'S AND ST THOMAS' NHS FOUNDATION TRUST   (United Kingdom)

^ah HARVARD MEDICAL SCHOOL   (United States)

^ai GLENFIELD HOSPITAL   (United Kingdom)

^aj UNIVERSITY OF WESTERN AUSTRALIA   (Australia)

^ak SIR CHARLES GAIRDNER HOSPITAL   (Australia)

^al ST JAMES S HOSPITAL   (Ireland)

^am QUEEN S UNIVERSITY   (Canada)

^an UNIVERSITY OF EDINBURGH   (United Kingdom)

^ao NATIONAL HEALTH SERVICE   (United Kingdom)

^ap MEDICAL RESEARCH COUNCIL   (United Kingdom)

^aq ELI LILLY AND COMPANY   (United States)

^ar CARDIFF UNIVERSITY   (United Kingdom)

^as UNIVERSITY OF SUSSEX   (United Kingdom)

^at SUSSEX PARTNERSHIP NHS FOUNDATION TRUST   (United Kingdom)

^au UNIVERSITY OF CALIFORNIA   (United States)

^av UNIVERSITY COLLEGE LONDON   (United Kingdom)

^aw NATIONAL PUBLIC HEALTH INSTITUTE   (Finland)

^ax UNIVERSITY OF EDINBURGH   (United Kingdom)

^ay UNIVERSITY OF HELSINKI   (Finland)

^az NEWCASTLE UNIVERSITY   (United Kingdom)

^ba UNIVERSITY OF ABERDEEN   (United Kingdom)

^bb UNIVERSITY OF GLASGOW   (United Kingdom)

^bc UNIVERSITY OF DUNDEE   (United Kingdom)

^bd KING SAUD BIN ABDULAZIZ UNIVERSITY FOR HEALTH SCIENCES   (Saudi Arabia)

^be UNIVERSITY HOSPITAL OF COLOGNE   (Germany)

^bf UNIVERSITY OF EDINBURGH   (United Kingdom)

^bg ADDENBROOKE S HOSPITAL   (United Kingdom)

^bh RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^bi UNIVERSITÉ DU QUÉBEC À MONTRÉAL   (Canada)

^bj UNIVERSITY OF OXFORD   (United Kingdom)

^bk INSTITUTE OF CANCER RESEARCH   (United Kingdom)

^bl GENETIC ALLIANCE UK   (United Kingdom)

^bm ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^bn INSTITUTO DE MEDICINA MOLECULAR   (Portugal)

^bo UNIVERSITY OF TURIN   (Italy)

^bp NORTHWICK PARK HOSPITAL   (United Kingdom)

^bq GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^br IWK Grace Health Center   (Canada)

^bs LONDON SCHOOL OF HYGIENE AND TROPICAL MEDICINE   (United Kingdom)

^bt IMPERIAL COLLEGE LONDON   (United Kingdom)

^bu HAROKOPIO UNIVERSITY   (Greece)

^bv FONDAZIONE POLICLINICO UNIVERSITARIO A GEMELLI IRCCS   (Italy)

^bw Experimental Genetics Division   (Qatar)

^bx ERASMUS MEDICAL CENTER   (Netherlands)

^by UNIVERSITY OF LONDON   (United Kingdom)

^bz UNIVERSITY OF HEIDELBERG   (Germany)

^ca NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^cb UNIVERSITY OF VERONA   (Italy)

^cc MEDICAL UNIVERSITY OF GRAZ   (Austria)

^cd SYNLAB ACADEMY   (Germany)

^ce UNIVERSITY OF HEIDELBERG   (Germany)

^cf University of Bristol Canynge Hall   (United Kingdom)

^cg GENTOFTE UNIVERSITY HOSPITAL   (Denmark)

^ch UNIVERSITY OF COPENHAGEN   (Denmark)

^ci SAN RAFFAELE HOSPITAL   (Italy)

^cj Rigshospitalet   (Denmark)

^ck UNIVERSITY OF VERONA   (Italy)

more..

Author keywords

[No Author keywords available]

Indexed keywords

ADIPONECTIN; LOW DENSITY LIPOPROTEIN CHOLESTEROL; TRIACYLGLYCEROL; LOW DENSITY LIPOPROTEIN RECEPTOR;

COHORT ANALYSIS; GENE EXPRESSION; GENETIC MARKER; GENETIC VARIATION; GENOME; PHENOTYPE;

ARTICLE; EXOME; GENE FREQUENCY; GENE LINKAGE DISEQUILIBRIUM; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC VARIABILITY; HUMAN; HUMAN GENOME; INDEL MUTATION; POPULATION GENETIC STRUCTURE; POPULATION STRUCTURE; PRIORITY JOURNAL; QUANTITATIVE TRAIT; SINGLE NUCLEOTIDE POLYMORPHISM; UNITED KINGDOM; ALLELE; BLOOD; COHORT ANALYSIS; DISEASES; DNA SEQUENCE; FEMALE; GENETIC PREDISPOSITION; GENETIC VARIATION; GENETICS; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GREAT BRITAIN; HEALTH; LIPID METABOLISM; MALE; MEDICAL GENETICS; MOLECULAR GENETICS; POPULATION GENETICS; STANDARD;

ADIPONECTIN; ALLELES; COHORT STUDIES; DISEASE; EXOME; FEMALE; GENETIC PREDISPOSITION TO DISEASE; GENETIC VARIATION; GENETICS, MEDICAL; GENETICS, POPULATION; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; GENOMICS; GREAT BRITAIN; HEALTH; HUMANS; LIPID METABOLISM; MALE; MOLECULAR SEQUENCE ANNOTATION; RECEPTORS, LDL; REFERENCE STANDARDS; SEQUENCE ANALYSIS, DNA; TRIGLYCERIDES;

EID: 84943182742     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature14962     Document Type: Article

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