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

Taylor, J; Martin, H; Lise, S; Broxholme, J; Cazier, J; Rimmer, A; Kanapin, A; Lunter, G; Fiddy, S; Allan, C; Aricescu, A; Attar, M; Babbs, C; Becq, J; Beeson, D; Bento, C; Bignell, P; Blair, E; Buckle, V; Bull, K; Cais, O; Cario, H; Chapel, H; Copley, R; Cornall, R; Craft, J; Dahan, K; Davenport, E; Dendrou, C; Devuyst, O; Fenwick, A; Flint, J; Fugger, L; Gilbert, R; Goriely, A; Green, A; Greger, I; Grocock, R; Gruszczyk, A; Hastings, R; Hatton, E; Higgs, D; Hill, A; Holmes, C; Howard, M; Hughes, L; Humburg, P; Johnson, D; Karpe, F; Kingsbury, Z; Kini, U; Knight, J; Krohn, J; Lamble, S; Langman, C; Lonie, L; Luck, J; McCarthy, D; McGowan, S; McMullin, M; Miller, K; Murray, L; Németh, A; Nesbit, A; Nutt, D; Ormondroyd, E; Oturai, A; Pagnamenta, A; Patel, S; Percy, M; Petousi, N; Piazza, P; Piret, S; Polanco-Echeverry, G; Popitsch, N; Powrie, F; Pugh, C; Quek, L; Robbins, P; Robson, K; Russo, A; Sahgal, N; van Schouwenburg, P; Schuh, A; Silverman, E; Simmons, A; Sørensen, P; Sweeney, E; Taylor, J; Thakker, R; Tomlinson, I; Trebes, A; Twigg, S; Uhlig, H; Vyas, P; Vyse, T; Wall, S; Watkins, H; Whyte, M; Witty, L; Wright, B; Yau, C; Buck, D; Humphray, S; Ratcliffe, P; Bell, J; Wilkie, A; Bentley, D; Donnelly, P; McVean, G

Journal article

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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APA Style

Taylor, J., Martin, H., Lise, S., Broxholme, J., Cazier, J., Rimmer, A., Kanapin, A., Lunter, G., Fiddy, S., Allan, C., Aricescu, A., Attar, M., Babbs, C., Becq, J., Beeson, D., Bento, C., Bignell, P., Blair, E., Buckle, V., … McVean, G. (2015). Factors influencing success of clinical genome sequencing across a broad spectrum of disorders. Nature Genetics, 47(7), 717–726.

MLA Style

Taylor, J., et al. “Factors Influencing Success of Clinical Genome Sequencing across a Broad Spectrum of Disorders.” Nature Genetics, vol. 47, no. 7, Nature Publishing Group, 2015, pp. 717–26.

Chicago Style

Taylor, J, H Martin, S Lise, J Broxholme, J Cazier, A Rimmer, A Kanapin, et al. 2015. “Factors Influencing Success of Clinical Genome Sequencing across a Broad Spectrum of Disorders.” Nature Genetics 47 (7): 717–26.
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Publisher copy:: 10.1038/ng.3304

Authors

+ Taylor, J More by this author

Institution:

University of Oxford

Division:

MPLS

Department:

Engineering Science

Sub department:

Institute of Biomedical Engineering

Role:

Author

+ Martin, H More by this author

Institution:

University of Oxford

Division:

MSD

Department:

NDM

Sub department:

Human Genetics Wt Centre

Role:

Author

+ Lise, S More by this author

Institution:

University of Oxford

Division:

MPLS

Department:

Engineering Science

Sub department:

Institute of Biomedical Engineering

Role:

Author

+ Broxholme, J More by this author

Institution:

University of Oxford

Division:

MSD

Department:

NDM

Sub department:

Human Genetics Wt Centre

Role:

Author

+ Cazier, J More by this author

Institution:

University of Oxford

Division:

MSD

Department:

NDM

Sub department:

Human Genetics Wt Centre

Role:

Author

More authors...

Funding

+ Medical Research Council More from this funder

Grant:

G090074791070

+ Wellcome Trust More from this funder

Grant:

090532/Z/09/Z

Bibliographic Details

Publisher:: Nature Publishing Group
Journal:: Nature Genetics More from this journal
Volume:: 47
Issue:: 7
Pages:: 717-726
Publication date:: 2015-05-18
DOI:: 10.1038/ng.3304
EISSN:: 1546-1718
ISSN:: 1061-4036

Item Description

Language:: English
Keywords:: Humans

Molecular Sequence Annotation

Sensitivity and Specificity

Molecular Diagnostic Techniques

High-Throughput Nucleotide Sequencing

Polymorphism, Single Nucleotide

Genetic Diseases, Inborn

Genome, Human

DNA Mutational Analysis

Base Sequence
Pubs id:: pubs:523398
UUID:: uuid:2c3ccb54-2cea-49b9-a8b0-9c2d5951088b
Local pid:: pubs:523398
Source identifiers:: 523398
Deposit date:: 2016-02-14

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Copyright holder:: Nature America

Licence:: Terms and Conditions of Use for Oxford University Research Archive

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Journal article

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

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