Skip to main content

Thank you for visiting You are using a browser version with limited support for CSS. To obtain the best experience, we recommend you use a more up to date browser (or turn off compatibility mode in Internet Explorer). In the meantime, to ensure continued support, we are displaying the site without styles and JavaScript.

The missing diversity in human epigenomic studies

Recent work has highlighted a lack of diversity in genomic studies. However, less attention has been given to epigenomics. Here, we show that epigenomic studies are lacking in diversity and propose several solutions to address this problem.

This is a preview of subscription content, access via your institution

Relevant articles

Open Access articles citing this article.

Access options

Rent or buy this article

Prices vary by article type



Prices may be subject to local taxes which are calculated during checkout

Fig. 1: Diversity in epigenomic data samples over time.
Fig. 2: Diversity in epigenomic data samples by assay.


  1. Popejoy, A. B. & Fullerton, S. M. Nature 538, 161–164 (2016).

    Article  CAS  Google Scholar 

  2. Sirugo, G., Williams, S. M. & Tishkoff, S. A. Cell 177, 26–31 (2019).

    Article  CAS  Google Scholar 

  3. The ENCODE Project Consortium. Nature 489, 57–74 (2012).

    Article  Google Scholar 

  4. Maurano, M. T. et al. Science 337, 1190–1195 (2012).

    Article  CAS  Google Scholar 

  5. Claussnitzer, M. et al. N. Engl. J. Med. 373, 895–907 (2015).

    Article  CAS  Google Scholar 

  6. Bravo González-Blas, C. et al. Nat. Methods 16, 397–400 (2019).

    Article  Google Scholar 

  7. Grafodatskaya, D., Chung, B., Szatmari, P. & Weksberg, R. J. Am. Acad. Child Adolesc. Psychiatry 49, 794–809 (2010).

    Article  Google Scholar 

  8. Husquin, L. T. et al. Genome Biol. 19, 222 (2018).

    Article  CAS  Google Scholar 

  9. Breeze, C. E. et al. Genome Med. 13, 74 (2021).

    Article  CAS  Google Scholar 

  10. Fraser, H. B., Lam, L. L., Neumann, S. M. & Kobor, M. S. Genome Biol. 13, R8 (2012).

    Article  CAS  Google Scholar 

  11. Tsai, P.-C. et al. Clin. Epigenetics 10, 126 (2018).

    Article  CAS  Google Scholar 

  12. Philibert, R. et al. Front. Psychol. 6, 656, (2015).

    Article  PubMed  PubMed Central  Google Scholar 

  13. Lu, A. T. et al. Aging (Albany NY) 11, 303–327 (2019).

    Article  CAS  Google Scholar 

  14. Birney, E., Smith, G. D. & Greally, J. M. PLoS Genet. 12, e1006105 (2016).

    Article  Google Scholar 

  15. van Dongen, J. et al. Nat. Commun. 7, 11115 (2016).

    Article  Google Scholar 

  16. Min, J. L. et al. Nat. Genet. 53, 1311–1321 (2021).

    Article  CAS  Google Scholar 

  17. Bell, J. T. et al. Genome Biol. 12, R10 (2011).

    Article  CAS  Google Scholar 

  18. Heyn, H. et al. Genome Res. 23, 1363–1372 (2013).

    Article  CAS  Google Scholar 

  19. Visscher, P. M. et al. Am. J. Hum. Genet. 101, 5–22 (2017).

    Article  CAS  Google Scholar 

  20. Visscher, P. M., Brown, M. A., McCarthy, M. I. & Yang, J. Am. J. Hum. Genet. 90, 7–24 (2012).

    Article  CAS  Google Scholar 

  21. Welter, D. et al. Nucleic Acids Res. 42, D1001–D1006 (2014).

    Article  CAS  Google Scholar 

  22. Edwards, S. L., Beesley, J., French, J. D. & Dunning, A. M. Am. J. Hum. Genet. 93, 779–797 (2013).

    Article  CAS  Google Scholar 

  23. Trynka, G. et al. Nat Genet. 45, 124–130 (2013).

    Article  CAS  Google Scholar 

  24. Tehranchi, A. et al. Elife 8, e39595 (2019).

    Article  Google Scholar 

  25. Taitt, H. E. Am. J. Mens Health 12, 1807 (2018).

    Article  Google Scholar 

  26. Mills, K. T. et al. Circulation 134, 441–450 (2016).

    Article  Google Scholar 

  27. GBD Chronic Kidney Disease Collaboration. Lancet 395, 709–733 (2020).

    Article  Google Scholar 

Download references


This project was supported in part by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health (C.E.B. and S.I.B.) and National Institutes of Health R01 MD012765, HL163972, DK117445 (grants to N.F.).

Author information

Authors and Affiliations


Corresponding author

Correspondence to Charles E. Breeze.

Ethics declarations

Competing interests

The authors declare no competing interests.

Supplementary information

Supplementary Table

Experiment-specific information from publicly available IHEC data (downloaded 20 July 2021). Information includes ethnicity, experiment ID, assay, target of assay, biosample summary, biosample term name, lab, project status, and date of release of the experiment.

Rights and permissions

Reprints and Permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Breeze, C.E., Beck, S., Berndt, S.I. et al. The missing diversity in human epigenomic studies. Nat Genet 54, 737–739 (2022).

Download citation

  • Published:

  • Issue Date:

  • DOI:

This article is cited by


Quick links

Nature Briefing

Sign up for the Nature Briefing newsletter — what matters in science, free to your inbox daily.

Get the most important science stories of the day, free in your inbox. Sign up for Nature Briefing