A scientometric review of genome-wide association studies

Communications Biology

Volumn 2, Issue 1, 2019, Pages

  Mills, Melinda C ^a   Rahal, Charles ^a  

^a UNIVERSITY OF OXFORD   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL LABORATORY PERSONNEL; FEMALE; FINANCIAL MANAGEMENT; GENETICS; GENOME-WIDE ASSOCIATION STUDY; HUMAN; HUMAN GENOME; MALE; PERSONNEL; PUBLISHING; UNITED KINGDOM; UNITED STATES; WHOLE GENOME SEQUENCING; WRITING;

AUTHORSHIP; CAPITAL FINANCING; FEMALE; GENETIC RESEARCH; GENOME, HUMAN; GENOME-WIDE ASSOCIATION STUDY; HUMANS; JOURNALISM, MEDICAL; MALE; MEDICAL LABORATORY PERSONNEL; RESEARCH PERSONNEL; UNITED KINGDOM; UNITED STATES; WHOLE GENOME SEQUENCING;

EID: 85066160384     PISSN: None     EISSN: 23993642     Source Type: Journal    
DOI: 10.1038/s42003-018-0261-x     Document Type: Review

References (68)

1. Visscher, P. M., Brown, M. A., McCarthy, M. I. & Yang, J. Five years of GWAS discovery. Am. J. Hum. Genet. 90, 7–24 (2012).
2. Visscher, P. M. et al. 10 years of GWAS discovery: biology, function, and translation. Am. J. Hum. Genet. 101, 5–22 (2017).
3. Thomsen, S. K. & Gloyn, A. L. Human genetics as a model for target validation: finding new therapies for diabetes. Diabetologia 60, 960–970 (2017).
4. Evangelou, E. & Ioannidis, J. P. A. Meta-analysis methods for genome-wide association studies and beyond. Nat. Rev. Genet. 14, 379–389 (2013).
5. Gallagher, M. D. & Chen-Plotkin, A. S. The post-GWAS era: from association to function. Am. J. Hum. Genet. 102, 717–730 (2018).
6. Manolio, T. A. In retrospect: a decade of shared genomic associations. Nature 546, 360–361 (2017).
7. Gibbs, K. D., McGready, J., Bennett, J. C. & Griffin, K. Biomedical sciencePh.D. career interest patterns by race/ethnicity andgender. PLoS ONE 9, e114736 (2014).
8. Hechtman, L. A. et al. NIH funding longevity by gender. Proc. Natl Acad. Sci. 115, 7943–7948 (2018).
9. Lauer, M. Trends in Diversity within the NIH-funded Workforce. NIH. at https://nexus.od.nih.gov/all/2018/08/07/trends-in-diversity-within-the-nih-funded-workforce/ (2018).
10. Welter, D. et al. The NHGRI GWAS Catalog, a curated resource of SNP-trait associations. Nucleic Acids Res. 42, 1001–1006 (2014).
11. MacArthur, J. et al. The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog). Nucleic Acids Res. 45, D896–D901 (2017).
12. Consortium, T. W. T. C. C. Genome-wide association study of 14000 cases of seven common diseases and 3000 shared controls. Nature 447, 661–678 (2007).
13. Panagiotou, O. A. et al. What should the genome-wide significance threshold be? Empirical replication of borderline genetic associations. Int. J. Epidemiol. 41, 273–286 (2012).
14. Hamer, D. & Sirota, L. Beware the chopsticks gene. Mol. Psychiatry 5, 11–13 (2000).
15. Need, A. C. & Goldstein, D. B. Next generation disparities in human genomics: concerns and remedies. Trends Genet. 25, 489–494 (2009).
16. Conomos, M. P. et al. Genetic diversity and association studies in us hispanic/latino populations: applications in the hispanic community health study/study of Latinos. Am. J. Hum. Genet. 98, 165–184 (2016).
17. After Havasupai litigation. Native Americans wary of genetic research. Am. J. Med. Genet. A. 152, 33592 (2010).
18. Shavers-Hornaday, V. L., Lynch, C. F., Burmeister, L. F. & Torner, J. C. Why are African Americans under-represented in medical research studies? Impediments to participation. Ethn. Health 2, 31–45 (1997).
19. Hindorff, L. A. et al. Prioritizing diversity in human genomics research. Nat. Rev. Genet. 19:175–185 (2017).
20. Martin, A. R. et al. Human demographic history impacts genetic risk prediction across diverse populations. Am. J. Hum. Genet. 100, 635–649 (2017).
21. Morales, J. et al. A standardized framework for representation of ancestry data in genomics studies, with application to the NHGRI-EBI GWAS Catalog. Genome Biol. 19,21 (2017).
22. Popejoy, A. B. et al. Genomics is failing on diversity. Nature 538, 161–164 (2016).
23. Panofsky, A. & Bliss, C. Ambiguity and scientific authority: population classification in genomic science. Am. Sociol. Rev. 82, 59–87 (2017).
24. Fumagalli, M. Greenlandic Inuit showgenetic signatures of diet and climate adaptation. Science 349, 1343–1347 (2015).
25. UN-DESA. United Nations Declaration on the Rights of Indigenous Peoples. (2017).
26. UN-DESA. Total Population - Both Sexes, 2017. (2017).
27. Wijmenga, C. & Zhernakova, A. The importance of cohort studies in the post-GWAS era. Nat. Genet. 50, 322–328 (2018).
28. Fry, A. et al. Comparison of sociodemographic and health-related characteristics of UK biobank participants with those of the general population. Am. J. Epidemiol. 186, 1026–1034 (2017).
29. Pulit, S. L., Karaderi, T. & Lindgren, C. M. Sexual dimorphisms in genetic loci linked to body fat distribution. Biosci. Rep. 37, (2017).
30. Verweij, R. M. et al. Sexual dimorphism in the genetic influence on human childlessness. Eur. J. Hum. Genet. 25, 1067–1074 (2017).
31. Dastani, Z. et al. Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet. 8, (2012).
32. Ioannidis, J. P. A., Klavans, R. & Boyack, K. W. Thousands of scientists publish a paper every five days. Nature 561, 167–169 (2018).
33. Nature. Gender imbalance in science journals is still pervasive. Nature 541, 435–436 (2017).
34. Hargreaves, S. et al. The gendered system of academic publishing. Lancet 391, 9–11 (2018).
35. West, J. D., Jacquet, J., King, M. M., Correll, S. J. & Bergstrom, C. T. Gender composition of scholarly publications (166–2011). Available at http://www.eigenfactor.org/gender/# (2013).
36. West, J. D., Jacquet, J., King, M. M., Correll, S. J. & Bergstrom, C. T. The role of gender in scholarly authorship. PLoS ONE 8, e66212 (2013).
37. Feramisco, J. D. et al. A gender gap in the dermatology literature? Cross-sectional analysis of manuscript authorship trends in dermatology journals during 3 decades. J. Am. Acad. Dermatol. 60, 63–69 (2009).
38. Sidhu, R. et al. The gender imbalance in academic medicine: a study of female authorship in the United Kingdom. J. R. Soc. Med. 102, 337–342 (2009).
39. Jagsi, R. et al. The “Gender Gap” in authorship of academic medical literature — a 35-year perspective. N. Engl. J. Med. 355, 281–287 (2006).
40. Dotson, B. Women as authors in the pharmacy literature: 1989–2009. Am. J. Health Pharm. 68, (2011).
41. NIH Revitalization Act of 1993 Public Law 103-43, Subtitle B—Clinical Research Equity Regarding Women and Minorities. Gov. Publ. Off. Available at https://www.govtrack.us/congress/bills/103/s1/text.
42. National Heart, Lung, and B. I. & Health, N. I. of. Inclusion of Minorities and Women in Study Populations- Questions and Answers. Available at https://www.nhlbi.nih.gov/grants-and-training/policies-and-guidelines/inclusion-of-minorities-and-women-in-study-populations-questions-and-answers.
43. Wellcome Trust, Public Engagement Fund. Available at https://wellcome.ac.uk/funding/public-engagement-fund (2018).
44. Bycroft, C. et al. Genome-wide genetic data on ~500,000 UK Biobank participants. bioRxiv 166298 (2017).
45. Servick, K. Can 23andMe have it all? Science 349, 1472–1477 (2015).
46. Sidore, C. et al. Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat. Genet. 47, 1272–1281 (2015).
47. Narasimhan, V. M. et al. Health and population effects of rare gene knockouts in adult humans with related parents. Science 352, 474–477 (2016).
48. Population Reference Bureau. World Population Data Sheet.
49. Courtiol, A., Tropf, F. C. & Mills, M. C. When genes and environment disagree: making sense of trends in recent human evolution. Proc. Natl. Acad. Sci. 113, 7693–7695 (2016).
50. Tropf, F. C. et al. Hidden heritability due to heterogeneity across seven populations. Nat. Hum. Behav. 1, 757–765 (2017).
51. Harris, T. B. et al. Age, Gene/Environment Susceptibility-Reykjavik Study: multidisciplinary applied phenomics. Am. J. Epidemiol. 165, 1076–1087 (2007).
52. Domingue, B. W. et al. Mortality selection in a genetic sample and implications for association studies. Int. J. Epidemiol. 46, 1285–1294 (2017).
53. Barban, N., Al., E. & Mills, M. C. Genome-wide analysis identifies 12 loci influencing human reproductive behavior. Nat. Genet. 48, 1462–1472 (2016).
54. Ware, E. B. et al. Heterogeneity in polygenic scores for common human traits. bioRxiv 106062 (2017).
55. Haiman, C. A. & Stram, D. O. Exploring genetic susceptibility to cancer in diverse populations. Curr. Opin. Genet. Dev. 20, 330–335 (2010).
56. Lee, J. J. & et al. Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals. Nat. Genet. 50, 1112–1121 (2018).
57. Nelson, A. The Social Life of DNA: Race, reparations and reconciliation after the genome. (Beacon Press, 2015).
58. Duster, T. in Genetic Nature/Culture: Anthropology and Science Beyond the Two-Culture Divide (eds. Goodman, A. H., Health, D. & Lindee, M. S.) 258–277 (University of California Press, 2003).
59. Murtagh, M. J. et al. Better governance, better access: practising responsible data sharing in the METADAC governance infrastructure. Hum. Genomics 12, 24 (2018).
60. Gurdasani, D. et al. The African Genome Variation Project shapes medical genetics in Africa. Nature 517, 327–332 (2015).
61. Nordling, L. African scientists call for more control of their continent’s genomic data. Nature. Available at 10.1038/d41586-018-04685-1 (2018).
62. NIH. Research Grant Investigators: Representation of Women, by Mechanism, 1998–2017. (2018).
63. Mills, M. C. et al. Gender equality in the workforce: reconciling work, private and family life in Europe. Available at 10.2838/54302 (2014).
64. Knoppers, B. M. & Joly, Y. Introduction: the why and whither of genomic data sharing. Hum. Genet. 137, 569–574 (2018).
65. Majumder, M. A. United States: law and policy concerning transfer of genomic data to third countries. Hum. Genet 137, 647–655 (2018).
66. Phillips, M. International data-sharing norms: from the OECD to the General Data Protection Regulation (GDPR). Hum. Genet. 137, 575–582 (2018).
67. Dove, E. S., Joly, Y., Tassé, A.-M. & Knoppers, B. M. Genomic cloud computing: legal and ethical points to consider. Eur. J. Hum. Genet. 23, 1271–1278 (2015).
68. Zhang, S. Big Pharma Would Like Your DNA. The Atlantic (2018).