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Whole genome sequencing may improve the diagnosis of rare diseases and shorten diagnostic journeys for patients.

11 Nov, 2021 | 08:46h | UTC

News Release: Whole genome sequencing improves diagnosis of rare diseases and shortens diagnostic journeys for patients – Queen Mary University of London

Original Study: 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care — Preliminary Report – New England Journal of Medicine

Related:

RCT: Effect of whole-genome sequencing on the clinical management of acutely ill infants with suspected genetic disease.

Review: Genome sequencing as a diagnostic test.

 


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