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...

Bibliografski detalji
Glavni autori:	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
Daljnji autori:	The 100,000 Genomes Project Pilot Investigators
Format:	Journal article
Jezik:	English
Izdano:	Massachusetts Medical Society 2021

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