Author

Joseph S. Leslie

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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

Review Open access Sep 2026

Expanding the neurobehavioral phenotype of HERC2-related disorder in the Amish

HERC2-related disorder (Autosomal recessive intellectual developmental disorder-38 (MRT38); Online Mendelian Inheritance in Man #615516) is an autosomal recessive neurodevelopmental condition characterized by global developmental delay, hypotonia, autistic behaviors, mild dysmorphic features, and an increased risk of s...

Ethan M. Scott, Olivia Wenger, Jennifer Hershberger et al. · Journal of Rare Diseases · 0 citations