The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

被引：2620

作者：

Buniello, Annalisa ^{[1
,2
]}

MacArthur, Jacqueline A. L. ^{[1
]}

Cerezo, Maria ^{[1
]}

Harris, Laura W. ^{[1
]}

Hayhurst, James ^{[1
]}

Malangone, Cinzia ^{[1
]}

McMahon, Aoife ^{[1
]}

Morales, Joannella ^{[1
]}

Mountjoy, Edward ^{[2
,3
,4
]}

Sollis, Elliot ^{[1
]}

Suveges, Daniel ^{[1
]}

Vrousgou, Olga ^{[1
,2
]}

Whetzel, Patricia L. ^{[1
]}

Amode, Ridwan ^{[1
]}

Guillen, Jose A. ^{[1
]}

Riat, Harpreet S. ^{[1
]}

Trevanion, Stephen J. ^{[1
]}

Hall, Peggy ^{[5
]}

Junkins, Heather ^{[5
]}

Flicek, Paul ^{[1
]}

Burdett, Tony ^{[1
]}

Hindorff, Lucia A. ^{[5
]}

Cunningham, Fiona ^{[1
]}

Parkinson, Helen ^{[1
]}

机构：

[1] European Bioinformat Inst, European Mol Biol Lab, Wellcome Genome Campus, Cambridge CB10 1SD, England

[2] Open Targets, Wellcome Genome Campus, Cambridge CB10 1SD, England

[3] Wellcome Sanger Inst, Wellcome Genome Campus, Cambridge CB10 1SA, England

[4] Univ Oxford, NIHR Oxford Biomed Res Ctr, JDRF Wellcome Trust Diabet & Inflammat Lab, Wellcome Ctr Human Genet,Nuffield Dept Med, Oxford, England

[5] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA

来源：

NUCLEIC ACIDS RESEARCH | 2019年 / 47卷 / D1期

基金：

英国惠康基金; 美国国家卫生研究院;

关键词：

SUSCEPTIBILITY LOCI; IDENTIFICATION; BREAST; COMMON; TRAITS; RISK;

D O I：

10.1093/nar/gky1120

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. The scope of the Catalog has also expanded to targeted and exome arrays with 1000 new associations added for these technologies. As of September 2018, the Catalog contains 5687 GWAS comprising 71673 variant-trait associations from 3567 publications. New content includes 284 full P-value summary statistics datasets for genome-wide and new targeted array studies, representing 6 x 10(9) individual variant-trait statistics. In the last 12 months, the Catalog's user interface was accessed by approximate to 90000 unique users who viewed >1 million pages. We have improved data access with the release of a new RESTful API to support high-throughput programmatic access, an improved web interface and a new summary statistics database. Summary statistics provision is supported by a new format proposed as a community standard for summary statistics data representation. This format was derived from our experience in standardizing heterogeneous submissions, mapping formats and in harmonizing content. Availability: https://www.ebi.ac.uk/gwas/.

引用

页码：D1005 / D1012

页数：8

共 35 条

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Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

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DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

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Ruklisa, Dace ;

Mann, Alice L. ;

Mead, Daniel ;

Bouman, Heleen ;

Riveros-Mckay, Fernando ;

Kostadima, Myrto A. ;

Lambourne, John J. ;

Sivapalaratnam, Suthesh ;

Downes, Kate ;

Kundu, Kousik ;

Bomba, Lorenzo ;

Berentsen, Kim ;

Bradley, John R. ;

Daugherty, Louise C. ;

Delaneau, Olivier ;

Freson, Kathleen ;

Garner, Stephen F. ;

Grassi, Luigi ;

Guerrero, Jose ;

Haimel, Matthias ;

Janssen-Megens, Eva M. ;

Kaan, Anita ;

Kamat, Mihir ;

Kim, Bowon ;

Mandoli, Amit ;

Marchini, Jonathan ;

Martens, Joost H. A. ;

Meacham, Stuart ;

Megy, Karyn ;

O'Connell, Jared ;

Petersen, Romina ;

Sharifi, Nilofar ;

Sheard, Simon M. ;

Staley, James R. ;

Tuna, Salih ;

van der Ent, Martijn ;

Walter, Klaudia ;

Wang, Shuang-Yin ;

Wheeler, Eleanor ;

Wilder, Steven P. ;

Iotchkova, Valentina ;

Moore, Carmel ;

Sambrook, Jennifer ;

Stunnenberg, Hendrik G. ;

Di Angelantonio, Emanuele ;

Kaptoge, Stephen .

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Barban, Nicola ;

Jansen, Rick ;

de Vlaming, Ronald ;

Vaez, Ahmad ;

Mandemakers, Jornt J. ;

Tropf, Felix C. ;

Shen, Xia ;

Wilson, James F. ;

Chasman, Daniel I. ;

Nolte, Illa M. ;

Tragante, Vinicius ;

van der Laan, Sander W. ;

Perry, John R. B. ;

Kong, Augustine ;

Ahluwalia, Tarunveer S. ;

Albrecht, Eva ;

Yerges-Armstrong, Laura ;

Atzmon, Gil ;

Auro, Kirsi ;

Ayers, Kristin ;

Bakshi, Andrew ;

Ben-Avraham, Danny ;

Berger, Klaus ;

Bergman, Aviv ;

Bertram, Lars ;

Bielak, Lawrence F. ;

Bjornsdottir, Gyda ;

Bonder, Marc Jan ;

Broer, Linda ;

Bui, Minh ;

Barbieri, Caterina ;

Cavadino, Alana ;

Chavarro, Jorge E. ;

Turman, Constance ;

Concas, Maria Pina ;

Cordell, Heather J. ;

Davies, Gail ;

Eibich, Peter ;

Eriksson, Nicholas ;

Esko, Tonu ;

Eriksson, Joel ;

Falahi, Fahimeh ;

Felix, Janine F. ;

Fontana, Mark Alan ;

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Gandin, Ilaria ;

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Pharoah, Paul D. ;

Eeles, Rosalind A. ;

Chatterjee, Nilanjan ;

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Schildkraut, Joellen M. ;

Lindstrom, Sara ;

Brennan, Paul ;

Bickeboller, Heike ;

Houlston, Richard S. ;

Landi, Maria Teresa ;

Caporaso, Neil ;

Risch, Angela ;

Al Olama, Ali Amin ;

Berndt, Sonja I. ;

Giovannucci, Edward L. ;

Gronberg, Henrik ;

Kote-Jarai, Zsofia ;

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Stampfer, Meir J. ;

Stevens, Victoria L. ;

Wiklund, Fredrik ;

Willett, Walter C. ;

Goode, Ellen L. ;

Permuth, Jennifer B. ;

Risch, Harvey A. ;

Reid, Brett M. ;

Bezieau, Stephane ;

Brenner, Hermann ;

Chan, Andrew T. ;

Chang-Claude, Jenny ;

Hudson, Thomas J. ;

Kocarnik, Jonathan K. ;

Newcomb, Polly A. ;

Schoen, Robert E. ;

Slattery, Martha L. ;

White, Emily ;

Adank, Muriel A. ;

Ahsan, Habibul ;

Aittomaki, Kristiina ;

Baglietto, Laura ;

Blomquist, Carl ;

Canzian, Federico ;

Czene, Kamila ;

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Gibbs, Richard A. ;

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Boudreau, Andrew ;

Hardenbol, Paul ;

Leal, Suzanne M. ;

Pasternak, Shiran ;

Wheeler, David A. ;

Willis, Thomas D. ;

Yu, Fuli ;

Yang, Huanming ;

Zeng, Changqing ;

Gao, Yang ;

Hu, Haoran ;

Hu, Weitao ;

Li, Chaohua ;

Lin, Wei ;

Liu, Siqi ;

Pan, Hao ;

Tang, Xiaoli ;

Wang, Jian ;

Wang, Wei ;

Yu, Jun ;

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Qi, Qibin ;

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Quaye, Lydia ;

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Justice, Anne E. ;

Winkler, Thomas W. ;

Feitosa, Mary F. ;

Graff, Misa ;

Fisher, Virginia A. ;

Young, Kristin ;

Barata, Llilda ;

Deng, Xuan ;

Czajkowski, Jacek ;

Hadley, David ;

Ngwa, Julius S. ;

Ahluwalia, Tarunveer S. ;

Chu, Audrey Y. ;

Heard-Costa, Nancy L. ;

Lim, Elise ;

Perez, Jeremiah ;

Eicher, John D. ;

Kutalik, Zoltan ;

Xue, Luting ;

Mahajan, Anubha ;

Renstrom, Frida ;

Wu, Joseph ;

Qi, Qibin ;

Ahmad, Shafqat ;

Alfred, Tamuno ;

Amin, Najaf ;

Bielak, Lawrence F. ;

Bonnefond, Amelie ;

Bragg, Jennifer ;

Cadby, Gemma ;

Chittani, Martina ;

Coggeshall, Scott ;

Corre, Tanguy ;

Direk, Nese ;

Eriksson, Joel ;

Fischer, Krista ;

Gorski, Mathias ;

Harder, Marie Neergaard ;

Horikoshi, Momoko ;

Huang, Tao ;

Huffman, Jennifer E. ;

Jackson, Anne U. ;

Justesen, Johanne Marie ;

Kanoni, Stavroula ;

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Kleber, Marcus E. ;

Komulainen, Pirjo ;

Kumari, Meena ;

Lim, Unhee ;

Luan, Jian'an .

NATURE COMMUNICATIONS, 2017, 8

← 1 2 3 4 →

共 35 条

[1] A global reference for human genetic variation [J].

Altshuler, David M. ;

Durbin, Richard M. ;

Abecasis, Goncalo R. ;

Bentley, David R. ;

Chakravarti, Aravinda ;

Clark, Andrew G. ;

Donnelly, Peter ;

Eichler, Evan E. ;

Flicek, Paul ;

Gabriel, Stacey B. ;

Gibbs, Richard A. ;

Green, Eric D. ;

Hurles, Matthew E. ;

Knoppers, Bartha M. ;

Korbel, Jan O. ;

Lander, Eric S. ;

Lee, Charles ;

Lehrach, Hans ;

Mardis, Elaine R. ;

Marth, Gabor T. ;

McVean, Gil A. ;

Nickerson, Deborah A. ;

Wang, Jun ;

Wilson, Richard K. ;

Boerwinkle, Eric ;

Doddapaneni, Harsha ;

Han, Yi ;

Korchina, Viktoriya ;

Kovar, Christie ;

Lee, Sandra ;

Muzny, Donna ;

Reid, Jeffrey G. ;

Zhu, Yiming ;

Chang, Yuqi ;

Feng, Qiang ;

Fang, Xiaodong ;

Guo, Xiaosen ;

Jian, Min ;

Jiang, Hui ;

Jin, Xin ;

Lan, Tianming ;

Li, Guoqing ;

Li, Jingxiang ;

Li, Yingrui ;

Liu, Shengmao ;

Liu, Xiao ;

Lu, Yao ;

Ma, Xuedi ;

Tang, Meifang ;

Wang, Bo .

NATURE, 2015, 526 (7571) :68-+

[2] The Genotype-Tissue Expression (GTEx) pilot analysis: Multitissue gene regulation in humans [J].

Ardlie, Kristin G. ;

DeLuca, David S. ;

Segre, Ayellet V. ;

Sullivan, Timothy J. ;

Young, Taylor R. ;

Gelfand, Ellen T. ;

Trowbridge, Casandra A. ;

Maller, Julian B. ;

Tukiainen, Taru ;

Lek, Monkol ;

Ward, Lucas D. ;

Kheradpour, Pouya ;

Iriarte, Benjamin ;

Meng, Yan ;

Palmer, Cameron D. ;

Esko, Tonu ;

Winckler, Wendy ;

Hirschhorn, Joel N. ;

Kellis, Manolis ;

MacArthur, Daniel G. ;

Getz, Gad ;

Shabalin, Andrey A. ;

Li, Gen ;

Zhou, Yi-Hui ;

Nobel, Andrew B. ;

Rusyn, Ivan ;

Wright, Fred A. ;

Lappalainen, Tuuli ;

Ferreira, Pedro G. ;

Ongen, Halit ;

Rivas, Manuel A. ;

Battle, Alexis ;

Mostafavi, Sara ;

Monlong, Jean ;

Sammeth, Michael ;

Mele, Marta ;

Reverter, Ferran ;

Goldmann, Jakob M. ;

Koller, Daphne ;

Guigo, Roderic ;

McCarthy, Mark I. ;

Dermitzakis, Emmanouil T. ;

Gamazon, Eric R. ;

Im, Hae Kyung ;

Konkashbaev, Anuar ;

Nicolae, Dan L. ;

Cox, Nancy J. ;

Flutre, Timothee ;

Wen, Xiaoquan ;

Stephens, Matthew .

SCIENCE, 2015, 348 (6235) :648-660

[3] The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease [J].

Astle, William J. ;

Elding, Heather ;

Jiang, Tao ;

Allen, Dave ;

Ruklisa, Dace ;

Mann, Alice L. ;

Mead, Daniel ;

Bouman, Heleen ;

Riveros-Mckay, Fernando ;

Kostadima, Myrto A. ;

Lambourne, John J. ;

Sivapalaratnam, Suthesh ;

Downes, Kate ;

Kundu, Kousik ;

Bomba, Lorenzo ;

Berentsen, Kim ;

Bradley, John R. ;

Daugherty, Louise C. ;

Delaneau, Olivier ;

Freson, Kathleen ;

Garner, Stephen F. ;

Grassi, Luigi ;

Guerrero, Jose ;

Haimel, Matthias ;

Janssen-Megens, Eva M. ;

Kaan, Anita ;

Kamat, Mihir ;

Kim, Bowon ;

Mandoli, Amit ;

Marchini, Jonathan ;

Martens, Joost H. A. ;

Meacham, Stuart ;

Megy, Karyn ;

O'Connell, Jared ;

Petersen, Romina ;

Sharifi, Nilofar ;

Sheard, Simon M. ;

Staley, James R. ;

Tuna, Salih ;

van der Ent, Martijn ;

Walter, Klaudia ;

Wang, Shuang-Yin ;

Wheeler, Eleanor ;

Wilder, Steven P. ;

Iotchkova, Valentina ;

Moore, Carmel ;

Sambrook, Jennifer ;

Stunnenberg, Hendrik G. ;

Di Angelantonio, Emanuele ;

Kaptoge, Stephen .

CELL, 2016, 167 (05) :1415-+

[4] Genome-wide analysis identifies 12 loci influencing human reproductive behavior [J].

Barban, Nicola ;

Jansen, Rick ;

de Vlaming, Ronald ;

Vaez, Ahmad ;

Mandemakers, Jornt J. ;

Tropf, Felix C. ;

Shen, Xia ;

Wilson, James F. ;

Chasman, Daniel I. ;

Nolte, Illa M. ;

Tragante, Vinicius ;

van der Laan, Sander W. ;

Perry, John R. B. ;

Kong, Augustine ;

Ahluwalia, Tarunveer S. ;

Albrecht, Eva ;

Yerges-Armstrong, Laura ;

Atzmon, Gil ;

Auro, Kirsi ;

Ayers, Kristin ;

Bakshi, Andrew ;

Ben-Avraham, Danny ;

Berger, Klaus ;

Bergman, Aviv ;

Bertram, Lars ;

Bielak, Lawrence F. ;

Bjornsdottir, Gyda ;

Bonder, Marc Jan ;

Broer, Linda ;

Bui, Minh ;

Barbieri, Caterina ;

Cavadino, Alana ;

Chavarro, Jorge E. ;

Turman, Constance ;

Concas, Maria Pina ;

Cordell, Heather J. ;

Davies, Gail ;

Eibich, Peter ;

Eriksson, Nicholas ;

Esko, Tonu ;

Eriksson, Joel ;

Falahi, Fahimeh ;

Felix, Janine F. ;

Fontana, Mark Alan ;

Franke, Lude ;

Gandin, Ilaria ;

Gaskins, Audrey J. ;

Gieger, Christian ;

Gunderson, Erica P. ;

Guo, Xiuqing .

NATURE GENETICS, 2016, 48 (12) :1462-1472

[5] Cross-Cancer Genome-Wide Analysis of Lung, Ovary, Breast, Prostate, and Colorectal Cancer Reveals Novel Pleiotropic Associations [J].

Fehringer, Gordon ;

Kraft, Peter ;

Pharoah, Paul D. ;

Eeles, Rosalind A. ;

Chatterjee, Nilanjan ;

Schumacher, Fredrick R. ;

Schildkraut, Joellen M. ;

Lindstrom, Sara ;

Brennan, Paul ;

Bickeboller, Heike ;

Houlston, Richard S. ;

Landi, Maria Teresa ;

Caporaso, Neil ;

Risch, Angela ;

Al Olama, Ali Amin ;

Berndt, Sonja I. ;

Giovannucci, Edward L. ;

Gronberg, Henrik ;

Kote-Jarai, Zsofia ;

Ma, Jing ;

Muir, Kenneth ;

Stampfer, Meir J. ;

Stevens, Victoria L. ;

Wiklund, Fredrik ;

Willett, Walter C. ;

Goode, Ellen L. ;

Permuth, Jennifer B. ;

Risch, Harvey A. ;

Reid, Brett M. ;

Bezieau, Stephane ;

Brenner, Hermann ;

Chan, Andrew T. ;

Chang-Claude, Jenny ;

Hudson, Thomas J. ;

Kocarnik, Jonathan K. ;

Newcomb, Polly A. ;

Schoen, Robert E. ;

Slattery, Martha L. ;

White, Emily ;

Adank, Muriel A. ;

Ahsan, Habibul ;

Aittomaki, Kristiina ;

Baglietto, Laura ;

Blomquist, Carl ;

Canzian, Federico ;

Czene, Kamila ;

dos-Santos-Silva, Isabel ;

Eliassen, A. Heather ;

Figueroa, Jonine D. ;

Flesch-Janys, Dieter .

CANCER RESEARCH, 2016, 76 (17) :5103-5114

[6] A second generation human haplotype map of over 3.1 million SNPs [J].

Frazer, Kelly A. ;

Ballinger, Dennis G. ;

Cox, David R. ;

Hinds, David A. ;

Stuve, Laura L. ;

Gibbs, Richard A. ;

Belmont, John W. ;

Boudreau, Andrew ;

Hardenbol, Paul ;

Leal, Suzanne M. ;

Pasternak, Shiran ;

Wheeler, David A. ;

Willis, Thomas D. ;

Yu, Fuli ;

Yang, Huanming ;

Zeng, Changqing ;

Gao, Yang ;

Hu, Haoran ;

Hu, Weitao ;

Li, Chaohua ;

Lin, Wei ;

Liu, Siqi ;

Pan, Hao ;

Tang, Xiaoli ;

Wang, Jian ;

Wang, Wei ;

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