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Applying whole-genome sequencing to populations in the UK's National Health Service (NHS) enabled the genetic diagnosis of rare diseases in thousands of patients, while providing information on the etiological variants and causative genes for many of the disorders, according to a paper appearing in Nature this week. In the study, a University of Cambridge-led team generated WGS data for 13,037 individuals enrolled in 57 NHS hospitals in the UK and 26 hospitals in other countries.

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