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Journal article

Views of rare disease participants in a UK whole-genome sequencing study towards secondary findings: a qualitative study

Abstract:

With large-scale genome sequencing initiatives underway, vast amounts of genomic data are being generated. Results—including secondary findings (SF)—are being returned, although policies around generation and management remain inconsistent. In order to inform relevant policy, it is essential that the views of stakeholders be considered—including participants who have made decisions about SF since the wider debate began. We conducted semi-structured interviews with sixteen rare disease pat...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41431-018-0106-6

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
More by this author
Institution:
University of Oxford
Division:
MSD
Department:
Nuffield Department of Population Health
Sub department:
Population Health
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
More from this funder
Grant:
Strategic Award (096527
Department of Health More from this funder
National Institute for Health Research More from this funder
National Institute for Health Research Biomedical Research Centre Programme More from this funder
Rhodes Trust More from this funder
Publisher:
Nature Publishing Group Publisher's website
Journal:
European Journal of Human Genetics Journal website
Volume:
26
Pages:
652-659
Publication date:
2018-02-13
Acceptance date:
2018-01-11
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
Keywords:
Pubs id:
pubs:817455
UUID:
uuid:52e77d50-4b60-46fe-bc40-fd3f2fe6d70d
Local pid:
pubs:817455
Source identifiers:
817455
Deposit date:
2018-01-11

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