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The missing diversity in human epigenomic studies

Nature Genetics volume 54, pages 737–739 (2022)Cite this article

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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.

Research in diverse populations is critical for understanding disease etiology and risk. Several recent publications have highlighted the lack of racial or ethnic diversity in genomic studies and have called for more research in diverse populations1,2. However, less attention has been given to epigenomics. Over the past ten years, great progress has been made in the understanding of regulatory elements through the efforts of the International Human Epigenome Consortium (IHEC), which mapped chromatin datasets and regulatory elements in a wide range of tissues and cell types and made many of these datasets freely available to the scientific community3. This comprehensive catalogue of cis-regulatory elements and chromatin datasets has proven useful for different areas such as genomic variant annotation4, fine mapping of genetic loci5, genome-editing approaches5 and the design of pipelines for single-cell-sequencing analyses6.

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

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Acknowledgements

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.).

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Authors and Affiliations

  1. Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

    Charles E. Breeze & Sonja I. Berndt

  2. UCL Cancer Institute, University College London, London, UK

    Charles E. Breeze & Stephan Beck

  3. Department of Epidemiology, University of North Carolina, Chapel Hill, NC, USA

    Nora Franceschini

Authors
  1. Charles E. Breeze
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  2. Stephan Beck
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  3. Sonja I. Berndt
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  4. Nora Franceschini
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Corresponding author

Correspondence to Charles E. Breeze.

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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.

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Breeze, C.E., Beck, S., Berndt, S.I. et al. The missing diversity in human epigenomic studies. Nat Genet 54, 737–739 (2022). https://doi.org/10.1038/s41588-022-01081-4

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