Journal article
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen’s Inherited Cardiomyopathy Expert Panel
- Abstract:
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Purpose
Integrating genomic sequencing in clinical care requires standardization of variant interpretation practices. The Clinical Genome Resource has established expert panels to adapt the American College of Medical Genetics and Genomics/Association for Molecular Pathology classification framework for specific genes and diseases. The Cardiomyopathy Expert Panel selected MYH7, a key contributor to inherited cardiomyopathies, as a pilot gene to develop a broadly app...
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- Publication status:
- Published
- Peer review status:
- Peer reviewed
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(Version of record, pdf, 326.8KB)
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- Publisher copy:
- 10.1038/gim.2017.218
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Authors
Funding
Wellcome Trust
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Bibliographic Details
- Publisher:
- Springer Nature Publisher's website
- Journal:
- Genetics in Medicine Journal website
- Volume:
- 20
- Issue:
- 3
- Pages:
- 351-359
- Publication date:
- 2018-01-04
- Acceptance date:
- 2017-10-24
- DOI:
- EISSN:
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1530-0366
- ISSN:
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1098-3600
- Pmid:
-
29300372
- Source identifiers:
-
815184
Item Description
- Language:
- English
- Subjects:
- Pubs id:
-
pubs:815184
- UUID:
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uuid:5c7d026b-0c2c-44ad-9b29-09f809bb2945
- Local pid:
- pubs:815184
- Deposit date:
- 2019-02-25
Terms of use
- Copyright holder:
- Kelley, MA et al
- Copyright date:
- 2018
- Notes:
- © The Author(s) 2018. This work is licensed under a Creative Commons Attribution 4.0 International License.
- Licence:
- CC Attribution (CC BY)
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