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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:

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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Publisher copy:
10.1038/gim.2017.218

Authors


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Grant:
NF-SI-0513-10087
NIHR-HCS-D13-04-006
More from this funder
Grant:
MC_U120085815
MC_UP_1102/20
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:
1530-0366
ISSN:
1098-3600
Pmid:
29300372
Language:
English
Subjects:
Pubs id:
pubs:815184
UUID:
uuid:5c7d026b-0c2c-44ad-9b29-09f809bb2945
Local pid:
pubs:815184
Source identifiers:
815184
Deposit date:
2019-02-25

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