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First 'average' human genome described from nearly a million individuals

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Researchers at the University of Exeter have constructed the first description of an 'average' human genome, drawing on whole-genome data from nearly 1 million participants across the UK Biobank and All of Us studies. Published in Genome Medicine, the work establishes a reference baseline for human genetic variation, with implications for interpreting individual genomes and assessing disease risk. The analysis is grounded in large, population-scale datasets, allowing the team to characterize which genetic variants are typical and which depart from the norm. As of the paper's publication, the average genome stands as a defined reference point; open questions include how it will be applied in clinical risk assessment and extended to more diverse populations.

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Oct 22
  1. medicalxpress.comPick
    'Average' human genome described for first time, with implications for disease risk

    A University of Exeter team analyzed whole-genome data from nearly 1 million individuals in the UK Biobank and All of Us studies to describe the "average" human genome for the first time. The paper was published in Genome Medicine, DOI: 10.1186/s13073-026-01792-x.

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