Table 3 shows selected demographic characteristics of the probands. Eur Heart J. Whenever possible, the parents are also enrolled. Bruce Gelb. Please try again with a different browser or device. Newly discovered CHD genes will be added to the resequencing platform.
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Data are initially processed at the Cores, and primary analysis data are deposited in the DataHub and made available publicly through Database of Genotypes and Phenotypes.
Ethical and practical guidelines for reporting genetic research results to study participants: updated guidelines from a National Heart, Lung, and Blood Institute working group. The publisher's final edited version of this article is available at Circ Res.
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|Parents are enrolled whenever available.
Our Terms of Service have been updated. Clinical sites are responsible for subject enrollment, as well as the collection of all data and biospecimens. Over mouse lines with cardiac defects have been recovered, and the underlying mutations are being identified. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. Rare copy number variants contribute to congenital left-sided heart disease.
The Congenital Heart Disease Genetic Network Study
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Email Address. Taken together, there are major challenges to assembling cohorts of sufficient size to power studies of most forms of CHD. It is likely that there are a large number of causative genes overall, and the expected frequency of causative variants for any one gene is low.
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|Specific aims Gene discovery—to identify a comprehensive array of genes responsible for CHD when mutated To identify novel mutations in known CHD-causing genes To determine the prevalence of mutations in novel and known CHD-causing genes among cohorts of subjects with CHD To determine how genetic factors influence clinical presentation and outcomes in CHD.
Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies. Functional validation in model organisms provides a complementary avenue to genetic data and is especially important in the setting of a genetically heterogeneous disease, such as CHD.
Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. Data Collection Proband demographics, cardiac diagnosis, and other clinical findings; medical and developmental histories; and pregnancy and birth history are collected with structured electronic case report forms.