Analysis of protein-coding genetic variation in 60,706 humans

Nature

Volumn 536, Issue 7616, 2016, Pages 285-291

  Lek, Monkol ^a,b,c,d   Karczewski, Konrad J ^a,b   Minikel, Eric V ^a,b,e   Samocha, Kaitlin E ^a,b,e   Banks, Eric ^b   Fennell, Timothy ^b   O'Donnell Luria, Anne H ^a,b,f   Ware, James S ^b,e,g,h,i   Hill, Andrew J ^a,b,j   Cummings, Beryl B ^a,b,e   Tukiainen, Taru ^a,b   Birnbaum, Daniel P ^b   Kosmicki, Jack A ^a,b,e   Duncan, Laramie E ^a,b   Estrada, Karol ^a,b   Zhao, Fengmei ^a,b   Zou, James ^b   Pierce Hoffman, Emma ^a,b   Berghout, Joanne ^k,l   Cooper, David N ^m   Deflaux, Nicole ⁿ   DePristo, Mark ^b   Do, Ron ^o   Flannick, Jason ^a,b   Fromer, Menachem ^a,b,o   Gauthier, Laura ^b   Goldstein, Jackie ^a,b   Gupta, Namrata ^b   Howrigan, Daniel ^a,b   Kiezun, Adam ^b   Kurki, Mitja I ^a,b   Moonshine, Ami Levy ^b   Natarajan, Pradeep ^a,b,e   Orozco, Lorena ^p   Peloso, Gina M ^a,b   Poplin, Ryan ^b   Rivas, Manuel A ^b   Ruano Rubio, Valentin ^b   Rose, Samuel A ^b   Ruderfer, Douglas M ^o   Shakir, Khalid ^b   Stenson, Peter D ^m   Stevens, Christine ^b   Thomas, Brett P ^a,b   Tiao, Grace ^b   Tusie Luna, Maria T ^q   Weisburd, Ben ^b   Won, Hong Hee ^r   Yu, Dongmei ^a,b   Altshuler, David M ^b,s   Ardissino, Diego ^t   Boehnke, Michael ^u   Danesh, John ^v   Donnelly, Stacey ^b   Elosua, Roberto ^w   Florez, Jose C ^a,b,e   Gabriel, Stacey B ^b   Getz, Gad ^a,b,e   Glatt, Stephen J ^x,y   Hultman, Christina M ^z   Kathiresan, Sekar ^a,b,e   Laakso, Markku ^aa   McCarroll, Steven ^b,e   McCarthy, Mark I ^ab,ac,ad   McGovern, Dermot ^ae   McPherson, Ruth ^af   Neale, Benjamin M ^a,b   Palotie, Aarno ^a,b,e,ag   Purcell, Shaun M ^o   Saleheen, Danish ^ah,ai,aj   Scharf, Jeremiah M ^a,b   Sklar, Pamela ^o   Sullivan, Patrick F ^z,ak   Tuomilehto, Jaakko ^ag   Tsuang, Ming T ^al   Watkins, Hugh C ^ab,ac   Wilson, James G ^am   Daly, Mark J ^a,b   MacArthur, Daniel G ^a,b   Abboud, H E ^an   Abecasis, G ^an   Aguilar Salinas, C A ^an   Arellano Campos, O ^an   Atzmon, G ^an   Aukrust, I ^an   Barr, C L ^an   Bell, G I ^an   Bergen, S ^an   Bjorkhaug L ^an   Blangero, J ^an   Bowden, D W ^an   Budman, C L ^an   Burtt, N P ^an   Centeno Cruz, F ^an   Chambers, J C ^an   Chambert, K ^an   Clarke, R ^an   Collins, R ^an   Coppola, G ^an   Cordova E J ^an   Cortes, M L ^an   Cox, N J ^an   Duggirala, R ^an   Farrall, M ^an   Fernandez Lopez, J C ^an   Fontanillas, P ^an   Frayling, T M ^an   Freimer, N B ^an   Fuchsberger, C ^an   Garcia Ortiz H ^an   Goel, A ^an   Gomez Vazquez M J ^an   Gonzalez Villalpando M E ^an   Gonzalez Villalpando C ^an   Grados, M A ^an   Groop, L ^an   Haiman, C A ^an   Hanis, C L ^an   Hattersley, A T ^an   Henderson, B E ^an   Hopewell, J C ^an   Huerta Chagoya, A ^an   Islas Andrade, S ^an   Jacobs, S B ^an   Jalilzadeh, S ^an   Jenkinson, C P ^an   Moran, J ^an   Jimenez Morale S ^an   Kahler A ^an   King, R A ^an   Kirov, G ^an   Kooner, J S ^an   Kyriakou, T ^an   Lee, J Y ^an   Lehman, D M ^an   Lyon, G ^an   MacMahon, W ^an   Magnusson, P K ^an   Mahajan, A ^an   Marrugat, J ^an   Martinez Hernandez A ^an   Mathews, C A ^an   McVean, G ^an   Meigs, J B ^an   Meitinger, T ^an   Mendoza Caamal, E ^an   Mercader, J M ^an   Mohlke, K L ^an   Moreno Macias H ^an   Morris, A P ^an   Najmi, L A ^an   Njolstad P R ^an   O'Donovan, M C ^an   Ordonez Sanchez M L ^an   Owen, M J ^an   Park, T ^an   Pauls, D L ^an   Posthuma, D ^an   Revilla Monsalve, C ^an   Riba, L ^an   Ripke, S ^an   Rodriguez Guillen R ^an   Rodriguez Torres M ^an   Sandor, P ^an   Seielstad, M ^an   Sladek, R ^an   Soberon X ^an   Spector, T D ^an   Tai, S E ^an   Teslovich, T M ^an   Walford, G ^an   Wilkens, L R ^an   Williams, A L ^an   more..

^a MASSACHUSETTS GENERAL HOSPITAL   (United States)

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

^c UNIVERSITY OF SYDNEY   (Australia)

^d CHILDREN S HOSPITAL AT WESTMEAD   (Australia)

^e HARVARD MEDICAL SCHOOL   (United States)

^f BOSTON CHILDREN S HOSPITAL   (United States)

^g NATIONAL HEART AND LUNG INSTITUTE   (United Kingdom)

^h ROYAL BROMPTON HOSPITAL   (United Kingdom)

ⁱ IMPERIAL COLLEGE LONDON   (United Kingdom)

^j UNIVERSITY OF WASHINGTON   (United States)

^k JACKSON LABORATORY   (United States)

^l UNIVERSITY OF ARIZONA   (United States)

^m CARDIFF UNIVERSITY   (United Kingdom)

ⁿ GOOGLE INC   (United States)

^o MOUNT SINAI SCHOOL OF MEDICINE   (United States)

^p INSTITUTO NACIONAL DE MEDICINA GENÓMICA   (Mexico)

^q INSTITUTO NACIONAL DE CIENCIAS MÉDICAS Y NUTRICIÓN SALVADOR ZUBIRÁN   (Mexico)

^r Sungkyunkwan University   (South Korea)

^s VERTEX PHARMACEUTICALS   (United States)

^t UNIVERSITY HOSPITAL OF PARMA   (Italy)

^u UNIVERSITY OF MICHIGAN   (United States)

^v UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^w HOSPITAL DEL MAR   (Spain)

^x SUNY UPSTATE MEDICAL UNIVERSITY   (United States)

^y State University of New York Upstate Medical University: College of Medicine   (United States)

^z KAROLINSKA INSTITUTE   (Sweden)

^aa KUOPIO UNIVERSITY HOSPITAL   (Finland)

^ab UNIVERSITY OF OXFORD   (United Kingdom)

^ac UNIVERSITY OF OXFORD   (United Kingdom)

^ad OXFORD UNIVERSITY HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^ae CEDARS SINAI MEDICAL CENTER   (United States)

^af UNIVERSITY OF OTTAWA HEART INSTITUTE   (Canada)

^ag UNIVERSITY OF HELSINKI   (Finland)

^ah UNIVERSITY OF PENNSYLVANIA   (United States)

^ai UNIVERSITY OF PENNSYLVANIA   (United States)

^aj Center for Non Communicable Diseases   (Pakistan)

^ak UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

^al UNIVERSITY OF CALIFORNIA   (United States)

^am UNIVERSITY OF MISSISSIPPI SCHOOL OF MEDICINE   (United States)

^an NONE

more..

Author keywords

[No Author keywords available]

Indexed keywords

PROTEIN; PROTEOME;

AGGREGATION; DATA SET; DISEASE; DNA; GENETIC ANALYSIS; GENETIC VARIATION; MUTATION; PATHOGENICITY; PHENOTYPE; PROTEIN;

ARTICLE; CODING; DNA SEQUENCE; EXOME; GENE; GENE MUTATION; GENETIC VARIABILITY; GENETIC VARIATION; HUMAN; MAJOR CLINICAL STUDY; PATHOGENICITY; PHENOTYPE; PRIORITY JOURNAL; PROTEIN AGGREGATION; PROTEIN ANALYSIS; PROTEIN DEPLETION; DNA MUTATIONAL ANALYSIS; GENETICS; INFORMATION PROCESSING; RARE DISEASE; SAMPLE SIZE;

DATASETS AS TOPIC; DNA MUTATIONAL ANALYSIS; EXOME; GENETIC VARIATION; HUMANS; PHENOTYPE; PROTEOME; RARE DISEASES; SAMPLE SIZE;

EID: 84982253941     PISSN: 00280836     EISSN: 14764687     Source Type: Journal    
DOI: 10.1038/nature19057     Document Type: Article

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