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Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Abstract:

To assess factors influencing the success of whole-genome sequencing for mainstream clinical diagnosis, we sequenced 217 individuals from 156 independent cases or families across a broad spectrum of disorders in whom previous screening had identified no pathogenic variants. We quantified the number of candidate variants identified using different strategies for variant calling, filtering, annotation and prioritization. We found that jointly calling variants across samples, filtering against b...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/ng.3304

Authors


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Institution:
University of Oxford
Division:
MPLS
Department:
Engineering Science
Sub department:
Institute of Biomedical Engineering
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MPLS
Department:
Engineering Science
Sub department:
Institute of Biomedical Engineering
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
NDM
Sub department:
Human Genetics Wt Centre
Role:
Author
Expand authors...
Publisher:
Nature Publishing Group Publisher's website
Journal:
Nature Genetics Journal website
Volume:
47
Issue:
7
Pages:
717-726
Publication date:
2015-05-18
DOI:
EISSN:
1546-1718
ISSN:
1061-4036
Source identifiers:
523398
Language:
English
Keywords:
Pubs id:
pubs:523398
UUID:
uuid:2c3ccb54-2cea-49b9-a8b0-9c2d5951088b
Local pid:
pubs:523398
Deposit date:
2016-02-14

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