The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report

The 100,000 genomes pilot on rare disease diagnosis in healthcare – a preliminary report

<p><strong>BACKGROUND:</strong> The UK 100,000 Genomes Project is in the process of investigating the role of genome sequencing of patients with undiagnosed rare disease following usual care, and the alignment of research with healthcare implementation in the UK’s national health s...

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Bibliographic Details
Main Authors: Smedley, D, Smith, KR, Rueda Martin, A, Buchanan, J, Wordsworth, S, de Burca, A, Davies, J, Crichton, C, Welch, J, Woods, K, Campbell, C, Camps, C, Gibson, K, Lester, T, Patel, S, Roy, NBA, Sen, A, Németh, AH, Taylor, J, Caulfield, M
Other Authors: The 100,000 Genomes Project Pilot Investigators
Format: Journal article
Language:English
Published: Massachusetts Medical Society 2021

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