Journal article
Analysis of 51 proposed hypertrophic cardiomyopathy genes from genome sequencing data in sarcomere negative cases has negligible diagnostic yield
- Abstract:
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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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- Files:
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(Version of record, pdf, 709.5KB)
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- Publisher copy:
- 10.1038/s41436-018-0375-z
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Authors
Funding
+ National Institute for Health Research
More from this funder
Funding agency for:
Thomson, K
Grant:
NIHR-HCS-D13-04-006
+ British Heart Foundation
More from this funder
Funding agency for:
Farrall, M
Grant:
RE/13/1/30181
Expand funders...
Bibliographic Details
- 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:
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1530-0366
- ISSN:
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1098-3600
- Pmid:
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30531895
Item Description
- Language:
- English
- Keywords:
- Pubs id:
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pubs:951512
- UUID:
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uuid:6a414b6b-cbbc-4d85-bc88-2f5bad12623d
- Local pid:
- pubs:951512
- Deposit date:
- 2018-12-11
Terms of use
- Copyright holder:
- Thomson et al
- Copyright date:
- 2018
- Notes:
- © The Author(s) 2018. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
- Licence:
- CC Attribution (CC BY)
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