The DOI matches its Crossref record; 57 of the 57 references it cites were found in a registry or an index.
A scientometric review of genome-wide association studies
Open accessAbstract
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.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls
The Wellcome Trust Case Control Consortium, Management Committee, Burton, P. R., Clayton, D. G., Cardon, L. R., Craddock, N., Deloukas, P., Duncanson, A., Kwiatkowski, D. P., McCarthy, M. I., et al. (2007) · Nature · doi:10.1038/nature05911 · Cited by 9,442
Fry, A., Littlejohns, T. J., Sudlow, C., Doherty, N., Adamska, L., Sprosen, T., Collins, R., & Allen, N. E. (2017) · American Journal of Epidemiology · doi:10.1093/aje/kwx246 · Cited by 3,979
10 Years of GWAS Discovery: Biology, Function, and Translation
Visscher, P. M., Wray, N. R., Zhang, Q., Sklar, P., McCarthy, M. I., Brown, M. A., & Yang, J. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.06.005 · Cited by 3,719
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
Welter, D., MacArthur, J., Morales, J., Burdett, T., Hall, P., Junkins, H., Klemm, A., Flicek, P., Manolio, T., Hindorff, L., et al. (2014) · Nucleic Acids Research · doi:10.1093/nar/gkt1229 · Cited by 2,707
23andMe Research Team, Lee, J. J., COGENT (Cognitive Genomics Consortium), Social Science Genetic Association Consortium, Wedow, R., Okbay, A., Kong, E., Maghzian, O., Zacher, M., Nguyen-Viet, T. A., et al. (2018) · Nature Genetics · doi:10.1038/s41588-018-0147-3 · Cited by 2,470
Visscher, P. M., Brown, M. A., McCarthy, M. I., & Yang, J. (2012) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2011.11.029 · Cited by 2,425
The new NHGRI-EBI Catalog of published genome-wide association studies (GWAS Catalog)
MacArthur, J., Bowler, E., Cerezo, M., Gil, L., Hall, P., Hastings, E., Junkins, H., McMahon, A., Milano, A., Morales, J., et al. (2017) · Nucleic Acids Research · doi:10.1093/nar/gkw1133 · Cited by 2,161
Genomics is failing on diversity
Popejoy, A. B., & Fullerton, S. M. (2016) · Nature · doi:10.1038/538161a · Cited by 1,924
Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations
Martin, A. R., Gignoux, C. R., Walters, R. K., Wojcik, G. L., Neale, B. M., Gravel, S., Daly, M. J., Bustamante, C. D., & Kenny, E. E. (2017) · The American Journal of Human Genetics · doi:10.1016/j.ajhg.2017.03.004 · Cited by 1,391
United Nations Declaration on the Rights of Indigenous Peoples
(2007) · International Journal of Cultural Property · doi:10.1017/s0940739107070270 · Cited by 1,334
Cited by
The NHGRI-EBI GWAS Catalog: knowledgebase and deposition resource
Sollis, E., Mosaku, A., Abid, A., Buniello, A., Cerezo, M., Gil, L., Groza, T., Güneş, O., Hall, P., Hayhurst, J., et al. (2023) · Nucleic Acids Research · doi:10.1093/nar/gkac1010 · Cited by 1,641
Analysis of polygenic risk score usage and performance in diverse human populations
Duncan, L., Shen, H., Gelaye, B., Meijsen, J., Ressler, K., Feldman, M., Peterson, R., & Domingue, B. (2019) · Nature Communications · doi:10.1038/s41467-019-11112-0 · Cited by 1,038
Peterson, R. E., Kuchenbaecker, K., Walters, R. K., Chen, C.-Y., Popejoy, A. B., Periyasamy, S., Lam, M., Iyegbe, C., Strawbridge, R. J., Brick, L., et al. (2019) · Cell · doi:10.1016/j.cell.2019.08.051 · Cited by 797
The Human Pangenome Project: a global resource to map genomic diversity
Wang, T., Antonacci-Fulton, L., Howe, K., Lawson, H. A., Lucas, J. K., Phillippy, A. M., Popejoy, A. B., Asri, M., Carson, C., Chaisson, M. J. P., et al. (2022) · Nature · doi:10.1038/s41586-022-04601-8 · Cited by 494
Variable prediction accuracy of polygenic scores within an ancestry group
Mostafavi, H., Harpak, A., Agarwal, I., Conley, D., Pritchard, J. K., & Przeworski, M. (2020) · eLife · doi:10.7554/elife.48376 · Cited by 457
Metadata
- Authors
- Mills, M. C., & Rahal, C.
- Venue
- Communications Biology
- Published
- 2019-01-07
- Volume
- 2
- Issue
- 1
- Pages
- 9-9
- ISSN
- 2399-3642 (ISSN-L)
- OpenAlex
- W2906964061
- Cited by
- 441
- References
- 57
- FWCI
- 10.53
- Type
- journal article
- Language
- en
- Open access
- gold
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: A scientometric review of genome-wide association studies. https://app.cochat.ai/papers/10.1038/s42003-018-0261-x
- The paper
- Mills, M. C., & Rahal, C. (2019). A scientometric review of genome-wide association studies. Communications Biology. https://doi.org/10.1038/s42003-018-0261-x
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
