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Genome accessibility reveals disease risk that gene expression misses

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Most disease-associated genetic alterations do not affect the genes themselves, but instead change how strongly they are expressed, often by modifying genome accessibility. Gene expression and accessibility have now been analysed simultaneously in 10 million immune cells from 1,108 people, linking disease-associated changes in accessibility to gene expression.

This is a summary of: Kanai, M. et al. Population-scale immune multiome atlas reveals regulatory disease mechanisms. Nature https://doi.org/10.1038/s41586-026-11078-2 (2026).

doi: https://doi.org/10.1038/d41586-026-03072-5

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References

  1. Kurki, M. I. et al. Nature 613, 508–518 (2023).

    Article  PubMed  Google Scholar 

  2. Siraj, L. et al. Nature https://doi.org/10.1038/s41586-026-10121-6 (2026).

    Article  Google Scholar 

  3. Mostafavi, H., Spence, J. P., Naqvi, S. & Pritchard, J. K. Nature Genet. 55, 1866–1875 (2023).

    Article  PubMed  Google Scholar 

  4. Liu, K. et al. Preprint at bioRxiv https://doi.org/10.1101/2025.03.12.642879 (2025).

  5. Wang, X. & Goldstein, D. B. Am. J. Hum. Genet. 106, 215–233 (2020).

    Article  PubMed  Google Scholar 

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