Article

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

2021-11-11

Abstract excerpt

BACKGROUND: The U.K. 100,000 Genomes Project is in the process of investigating the role of genome sequencing in patients with undiagnosed rare diseases after usual care and the alignment of this research with health care implementation in the U.K. National Health Service. Other parts of this project focus on patients with cancer and infection. METHODS: We conducted a pilot study involving 4660 participants from 2...

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Literature Corpus work: c5b54a8a-6aa6-5779-91fb-77be2c056cf4
DOI: 10.17863/cam.108059

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