Author

G. Hawkes

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Review Open access Oct 2026

The average individual genome: a survey of nearly 1 million whole-genome sequences

As whole-genome sequencing (WGS) is increasingly used in clinical and public health contexts, clearer expectations regarding the amount of variation present in the “average” human genome are required to contextualise findings. We analysed WGS data from two large population cohorts: 490,541 individuals in UK Biobank (UK...

Harrison I. W. Wright, Robin N. Beaumont, J. Fasham et al. · Genome Medicine · 0 citations

Open access Aug 2026

Genetic association stratified by HLA-DR3 and HLA-DR4 status reveals heterogeneity in pathways of progression to type 1 diabetes.

AIMS/HYPOTHESIS There are substantial differences in the clinical presentation of type 1 diabetes depending on the first-developing autoantibody, although the underlying mechanisms are poorly understood. The DR3-DQ2 (DR3) and DR4-DQ8 (DR4) haplotypes at the MHC locus associate with GADA and IAA as the first-developing...

A. Luckett, Carolyn McGrail, K. Murrall et al. · Diabetologia · 0 citations

Open access Sep 2026

AlphaGenome Atlas: in silico mutagenesis of the entire human genome improves prioritization and interpretation of non-coding variants

A major challenge in genomics is deciphering the functional consequences of non-coding genetic variation. Here we present AlphaGenome Atlas, a comprehensive resource that enables the joint interpretation and prioritization of variant effects across the entire human genome. Using AlphaGenome, we predicted the regulatory...

Jun Cheng, Kyle R. Taylor, Lauren Nicolaisen et al. · medRxiv · 3 citations · ⚡1