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...
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 |
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מחברים אחרים: | The 100,000 Genomes Project Pilot Investigators |
פורמט: | Journal article |
שפה: | English |
יצא לאור: |
Massachusetts Medical Society
2021
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