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Author

Kashyap A. Patel

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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. · 0 citations
Open access Sep 2026

Comprehensive assessment of the genotype-phenotype spectrum and treatment for monoallelic insulin receptoropathy in a cohort of 505 people

Background: Insulin signalling is mediated by the INSR-encoded receptor tyrosine kinase. Biallelic INSR variants cause the most severe insulin resistance (IR), whereas heterozygous mutations cause less rare but still severe IR. Dominantly inherited IR has been attributed to dominant negative action of intracellular (IC...

Rebecca J. Brown, Jing-Xiang Xu, J. Luan et al. · 0 citations

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