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Journal article

Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield

Abstract:
Purpose Increasing numbers of genes are being implicated in Mendelian disorders and incorporated into clinical test panels. However, lack of evidence supporting the gene-disease relationship can hinder interpretation. We explored the utility of testing 51 additional genes for hypertrophic cardiomyopathy (HCM), one of the most commonly tested Mendelian disorders.

Methods Using genome sequencing data from 240 sarcomere gene negative HCM cases and 622... Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1038/s41436-018-0375-z

Authors


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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Oxford college:
Kellogg College
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
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Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Oxford college:
Hertford College
Role:
Author
More by this author
Institution:
University of Oxford
Division:
Medical Sciences Division
Department:
RDM
Sub department:
RDM Cardiovascular Medicine
Role:
Author
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Funding agency for:
Thomson, K
Grant:
NIHR-HCS-D13-04-006
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Funding agency for:
Daniels, M
Grant:
WT098519MA
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Funding agency for:
Farrall, M
Grant:
RE/13/1/30181
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Funding agency for:
Farrall, M
Grant:
RE/13/1/30181
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Funding agency for:
Watkins, H
Grant:
RE/13/1/30181
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Publisher:
Springer Nature Publisher's website
Journal:
Genetics in Medicine Journal website
Volume:
21
Issue:
7
Pages:
1576–1584
Publication date:
2018-12-11
Acceptance date:
2018-12-08
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
Pmid:
30531895
Language:
English
Keywords:
Pubs id:
pubs:951512
UUID:
uuid:6a414b6b-cbbc-4d85-bc88-2f5bad12623d
Local pid:
pubs:951512
Deposit date:
2018-12-11

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