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Combination of Whole Genome Sequencing, Linkage and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy with Features of Left Ventricular Non-Compaction.

Abstract:

Background—High throughput next generation sequencing techniques have made whole genome sequencing accessible in clinical practice, however, the abundance of variation in the human genomes makes the identification of a disease-causing mutation on a background of benign rare variants challenging.

Methods and Results—Here we combine whole genome sequencing with linkage analysis in a three-generation family affected by cardiomyopathy with features of autosomal dominant left-ventricula...

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Publication status:
Published
Peer review status:
Peer reviewed
Version:
Publisher's version

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Publisher copy:
10.1161/CIRCGENETICS.116.001431

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Department:
Oxford, MSD, RDM, RDM Cardiovascular Medicine
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Department:
Oxford, MSD, RDM, RDM Cardiovascular Medicine
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Department:
Oxford, MSD, RDM, RDM Cardiovascular Medicine
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Department:
Oxford, MSD, RDM, RDM Cardiovascular Medicine
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Department:
Oxford, MSD, NIHR Biomedical Research Centre
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Grant:
FS/12/40/29712; PG/15/113/31944; HSRNWBY; HSRNWB11; RE/13/1/30181
Publisher:
Lippincott, Williams and Wilkins Publisher's website
Journal:
Circulation: Cardiovascular Genetics Journal website
Publication date:
2016-09-13
Acceptance date:
2016-08-31
DOI:
EISSN:
1942-3268
ISSN:
1942-325X
Pubs id:
pubs:644383
URN:
uri:66457dbe-346b-42bb-b80f-49accff1937e
UUID:
uuid:66457dbe-346b-42bb-b80f-49accff1937e
Local pid:
pubs:644383

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