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The 100,000 Genomes Pilot on rare disease diagnosis in healthcare - preliminary report

The 100,000 Genomes Pilot on rare disease diagnosis in healthcare - preliminary report
The 100,000 Genomes Pilot on rare disease diagnosis in healthcare - preliminary report
0028-4793
1868-1880
Smedley, Damian
e10e5b38-5efb-4b50-ae2b-8e7bb9fd2916
Smith, Katherine R
e664f862-2631-40a4-b994-e7ef4e488312
Rueda Martin, Antonio
d0f2771e-cd65-4558-9e52-c4deec5bbea7
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
et al.
Smedley, Damian
e10e5b38-5efb-4b50-ae2b-8e7bb9fd2916
Smith, Katherine R
e664f862-2631-40a4-b994-e7ef4e488312
Rueda Martin, Antonio
d0f2771e-cd65-4558-9e52-c4deec5bbea7
Seaby, Eleanor
ec948f42-007c-4bd8-9dff-bb86278bf03f
Temple, Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226

et al. (2021) The 100,000 Genomes Pilot on rare disease diagnosis in healthcare - preliminary report. New England Journal of Medicine, 385 (20), 1868-1880. (doi:10.1056/NEJM0a2035790).

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More information

Accepted/In Press date: 6 August 2021
Published date: 11 November 2021

Identifiers

Local EPrints ID: 450894
URI: http://eprints.soton.ac.uk/id/eprint/450894
ISSN: 0028-4793
PURE UUID: 2d6b913d-3c47-41c6-884d-6e547946f730
ORCID for Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

Catalogue record

Date deposited: 19 Aug 2021 16:30
Last modified: 12 Nov 2021 02:37

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Contributors

Author: Damian Smedley
Author: Katherine R Smith
Author: Antonio Rueda Martin
Author: Eleanor Seaby
Author: Karen Temple ORCID iD
Corporate Author: et al.

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