Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Jun;54(6):737-739.
doi: 10.1038/s41588-022-01081-4.

The missing diversity in human epigenomic studies

Charles E Breeze  1   2 , Stephan Beck  3 , Sonja I Berndt  4 , Nora Franceschini  5
Affiliations

The missing diversity in human epigenomic studies

Charles E Breeze et al. Nat Genet. 2022 Jun.

Abstract

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.

PubMed Disclaimer

Conflict of interest statement

Competing interests

The authors declare no competing interests.

Figures

Figure 1:
Figure 1:. Diversity in epigenetic data samples over time:
Shown is the cumulative number of samples per year in publicly-available IHEC data (2009–2020, left panel). Different segments of the chart are color-coded by ethnicity as found in IHEC. Ethnicity information was obtained from the relevant studies. Given the large proportion of samples in individuals of European ethnicity as found in IHEC (red), a zoom-in chart is provided (right panel) showing the different cumulative sample numbers in non-European populations across the same timeframe.
Figure 2:
Figure 2:. Diversity in epigenetic data samples by assay:
the doughnut chart (lower panel) shows the total number of samples by assay (outer ring) and by ethnicity (inner ring). Given the large proportion of samples in individuals of European ethnicity as found in IHEC, a zoom-in area chart is provided (top panel) showing the different sample number by assay in non-European populations.
See this image and copyright information in PMC

References

    1. Popejoy AB & Fullerton SM Genomics is failing on diversity. Nature 538, 161–164 (2016). - PMC - PubMed
    1. Sirugo G, Williams SM & Tishkoff SA The Missing Diversity in Human Genetic Studies. Cell 177, 26–31 (2019). - PMC - PubMed
    1. ENCODE Project Consortium. An integrated encyclopedia of DNA elements in the human genome. Nature 489, 57–74 (2012). - PMC - PubMed
    1. Maurano MT et al. Systematic localization of common disease-associated variation in regulatory DNA. Science 337, 1190–1195 (2012). - PMC - PubMed
    1. Claussnitzer M et al. FTO Obesity Variant Circuitry and Adipocyte Browning in Humans. N. Engl. J. Med 373, 895–907 (2015). - PMC - PubMed

Publication types