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An expanded genomic database for identifying disease-related variants

An expanded version of a human-genome database called gnomAD, containing 76,156 whole-genome sequences, has enabled investigation of how variants in non-protein-coding regions of the genome affect health.
  1. Ryan S. Dhindsa

    1. Ryan S. Dhindsa is in the Department of Pathology and Immunology, Baylor College of Medicine, Houston, Texas 77030, USA, and the Centre for Genomics Research, Discovery Sciences, AstraZeneca, Waltham, Massachusetts.

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  2. Slavé Petrovski

    1. Slavé Petrovski is in the Centre for Genomics Research, Discovery Sciences, R&D, AstraZeneca, Cambridge CB2 0AA, UK.

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Scientists have long suspected that many disease-causing genetic mutations reside in the 98% of the genome that does not encode proteins, especially in regions that have roles in regulating gene expression. However, it has been challenging to differentiate systematically between harmful and neutral mutations, partly because researchers lack a clear picture of which stretches of the non-coding genome are essential for human health. Writing in Nature, Chen et al.1 address this challenge, introducing a tool that can analyse large collections of human genomes to identify non-coding regions that have the greatest potential to cause disease when mutated.

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Nature 625, 32-34 (2024)

doi: https://doi.org/10.1038/d41586-023-01598-6

References

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Competing Interests

R.S.D. and S.P. are current employees and/or stockholders of AstraZeneca.

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