A scientometric review of genome-wide association studies

被引：277

作者：

Mills, Melinda C. ^{[1
,2
]}

Rahal, Charles ^{[1
,2
]}

机构：

[1] Univ Oxford, New Rd, Oxford OX1 1NF, England

[2] Univ Oxford Nuffield Coll, New Rd, Oxford OX1 1NF, England

来源：

COMMUNICATIONS BIOLOGY | 2019年 / 2卷 / 1期

基金：

英国惠康基金; 欧洲研究理事会;

关键词：

GENDER-GAP; AUTHORSHIP; SUSCEPTIBILITY; TRENDS;

D O I：

10.1038/s42003-018-0261-x

中图分类号：

Q [生物科学];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

This scientometric review of genome-wide association studies (GWAS) from 2005 to 2018 (3639 studies; 3508 traits) reveals extraordinary increases in sample sizes, rates of discovery and traits studied. A longitudinal examination shows fluctuating ancestral diversity, still predominantly European Ancestry (88% in 2017) with 72% of discoveries from participants recruited from three countries (US, UK, Iceland). US agencies, primarily NIH, fund 85% and women are less often senior authors. We generate a unique GWAS H-Index and reveal a tight social network of prominent authors and frequently used data sets. We conclude with 10 evidence-based policy recommendations for scientists, research bodies, funders, and editors.

引用

页数：11

共 66 条

[1]

[Anonymous], 2017, NATURE, DOI DOI 10.1038/541435B

[2]

[Anonymous], 2010, AM J MED GENET A, V152, P33592

[3]

[Anonymous], 2012, World Population Data Sheet

[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] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[6]

Bycroft, 2017, BIORXIV, DOI DOI 10.1101/166298

[7] Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos [J].

Conomos, Matthew P. ;

Laurie, Cecelia A. ;

Stilp, Adrienne M. ;

Gogarten, Stephanie M. ;

McHugh, Caitlin P. ;

Nelson, Sarah C. ;

Sofer, Tamar ;

Fernandez-Rhodes, Lindsay ;

Justice, Anne E. ;

Graff, Mariaelisa ;

Young, Kristin L. ;

Seyerle, Amanda A. ;

Avery, Christy L. ;

Taylor, Kent D. ;

Rotter, Jerome I. ;

Talavera, Gregory A. ;

Daviglus, Martha L. ;

Wassertheil-Smoller, Sylvia ;

Schneiderman, Neil ;

Heiss, Gerardo ;

Kaplan, Robert C. ;

Franceschini, Nora ;

Reiner, Alex P. ;

Shaffer, John R. ;

Barr, R. Graham ;

Kerr, Kathleen F. ;

Browning, Sharon R. ;

Browning, Brian L. ;

Weir, Bruce S. ;

Aviles-Santa, M. Larissa ;

Papanicolaou, George J. ;

Lumley, Thomas ;

Szpiro, Adam A. ;

North, Kari E. ;

Rice, Ken ;

Thornton, Timothy A. ;

Laurie, Cathy C. .

AMERICAN JOURNAL OF HUMAN GENETICS, 2016, 98 (01) :165-184

[8] When genes and environment disagree: Making sense of trends in recent human evolution [J].

Courtiol, Alexandre ;

Tropf, Felix C. ;

Mills, Melinda C. .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2016, 113 (28) :7693-7695

[9] Novel Loci for Adiponectin Levels and Their Influence on Type 2 Diabetes and Metabolic Traits: A Multi-Ethnic Meta-Analysis of 45,891 Individuals [J].

Dastani, Zari ;

Hivert, Marie-France ;

Timpson, Nicholas ;

Perry, John R. B. ;

Yuan, Xin ;

Scott, Robert A. ;

Henneman, Peter ;

Heid, Iris M. ;

Kizer, Jorge R. ;

Lyytikainen, Leo-Pekka ;

Fuchsberger, Christian ;

Tanaka, Toshiko ;

Morris, Andrew P. ;

Small, Kerrin ;

Isaacs, Aaron ;

Beekman, Marian ;

Coassin, Stefan ;

Lohman, Kurt ;

Qi, Lu ;

Kanoni, Stavroula ;

Pankow, James S. ;

Uh, Hae-Won ;

Wu, Ying ;

Bidulescu, Aurelian ;

Rasmussen-Torvik, Laura J. ;

Greenwood, Celia M. T. ;

Ladouceur, Martin ;

Grimsby, Jonna ;

Manning, Alisa K. ;

Liu, Ching-Ti ;

Kooner, Jaspal ;

Mooser, Vincent E. ;

Vollenweider, Peter ;

Kapur, Karen A. ;

Chambers, John ;

Wareham, Nicholas J. ;

Langenberg, Claudia ;

Frants, Rune ;

Willems-vanDijk, Ko ;

Oostra, Ben A. ;

Willems, Sara M. ;

Lamina, Claudia ;

Winkler, Thomas W. ;

Psaty, Bruce M. ;

Tracy, Russell P. ;

Brody, Jennifer ;

Chen, Ida ;

Viikari, Jorma ;

Kahonen, Mika ;

Pramstaller, Peter P. .

PLOS GENETICS, 2012, 8 (03)

[10] Mortality selection in a genetic sample and implications for association studies [J].

Domingue, Benjamin W. ;

Belsky, Daniel W. ;

Harrati, Amal ;

Conley, Dalton ;

Weir, David R. ;

Boardman, Jason D. .

INTERNATIONAL JOURNAL OF EPIDEMIOLOGY, 2017, 46 (04) :1285-1294

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