Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients

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Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients

A world-first scientific study, published in the New England Journal of Medicine, has shown that whole genome sequencing (WGS) can uncover new diagnoses for people across the broadest range of rare diseases investigated to date and could deliver enormous benefits across the NHS. 

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