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Whole-genome sequencing of patients with rare diseases in a national health system

Abstract:

Most patients with rare diseases do not receive a molecular diagnosis and the aetiological variants and causative genes for more than half such disorders remain to be discovered. Here we used whole-genome sequencing (WGS) in a national health system to streamline diagnosis and to discover unknown aetiological variants in the coding and non-coding regions of the genome. We generated WGS data for 13,037 participants, of whom 9,802 had a rare disease, and provided a genetic diagnosis to 1,138 of...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41586-020-2434-2

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Oxford college:
Merton College
Role:
Author
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Oxford college:
Merton College
Role:
Author
More by this author
Oxford college:
Merton College
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Clinical Neurosciences
Oxford college:
Merton College
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Oxford college:
Merton College
Role:
Author
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Contributors

Publisher:
Springer Nature Publisher's website
Journal:
Nature Journal website
Volume:
583
Pages:
96-102
Publication date:
2020-06-24
Acceptance date:
2020-05-05
DOI:
EISSN:
1476-4687
ISSN:
0028-0836
Language:
English
Keywords:
Pubs id:
1097650
Local pid:
pubs:1097650
Deposit date:
2020-06-23

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