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...
Asıl Yazarlar: | 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 |
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Diğer Yazarlar: | The 100,000 Genomes Project Pilot Investigators |
Materyal Türü: | Journal article |
Dil: | English |
Baskı/Yayın Bilgisi: |
Massachusetts Medical Society
2021
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