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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Үндсэн зохиолчид: 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
Бусад зохиолчид: The 100,000 Genomes Project Pilot Investigators
Формат: Journal article
Хэл сонгох:English
Хэвлэсэн: Massachusetts Medical Society 2021

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