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Journal article

A screening approach to identify clinically actionable variants causing congenital heart disease in exome data

Abstract:

Background: Congenital heart disease (CHD)—structural abnormalities of the heart that arise during embryonic development—is the most common inborn malformation, affecting ≤1% of the population. However, currently, only a minority of cases can be explained by genetic abnormalities. The goal of this study was to identify disease-causal genetic variants in 30 families affected by CHD.

Methods: Whole-exome sequencing was performed with the DNA of multiple family members. We utilized a ...

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Publication status:
Published
Peer review status:
Peer reviewed

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Publisher copy:
10.1161/CIRCGEN.117.001978

Authors


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Kirby Foundation More from this funder
Office of Health and Medical Research NSW Government More from this funder
Chain Reaction More from this funder
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Publisher:
American Heart Association Publisher's website
Journal:
Circulation: Genomic and Precision Medicine Journal website
Volume:
11
Issue:
3
Article number:
e001978
Publication date:
2018-03-19
Acceptance date:
2018-01-18
DOI:
EISSN:
1942-3268
ISSN:
1942-325X
Source identifiers:
821050
Keywords:
Pubs id:
pubs:821052
UUID:
uuid:4d6bab0e-e842-41ce-a864-627c5fcece1b
Local pid:
pubs:821052
Deposit date:
2018-01-23

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