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The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results

The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results Sridhar Special Article RES The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results Pediatric Cardiac Genomics Consortium Design and Early Results of CHD GENES Pediatric Cardiac Genomics Consortium Abstract: Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later Circ Res morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute- funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac 146,89 Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/ data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years. http://www.deepdyve.com/assets/images/DeepDyve-Logo-lg.png Circulation Research Wolters Kluwer Health

The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results

Circulation Research , Volume 112 (4) – Feb 1, 2013
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References (39)

Copyright
© 2013 American Heart Association, Inc.
ISSN
0009-7330
eISSN
1524-4571
DOI
10.1161/CIRCRESAHA.111.300297
pmid
23410879
Publisher site
See Article on Publisher Site

Abstract

Sridhar Special Article RES The Congenital Heart Disease Genetic Network Study Rationale, Design, and Early Results Pediatric Cardiac Genomics Consortium Design and Early Results of CHD GENES Pediatric Cardiac Genomics Consortium Abstract: Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later Circ Res morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute- funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac 146,89 Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/ data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands <1-year-old. Parents are enrolled whenever available. Enrollment from December 2010 to June 2012 comprised 3772 probands. One or both parents were enrolled for 72% of probands. Proband median age is 5.5 years.

Journal

Circulation Research – Wolters Kluwer Health

Published: Feb 1, 2013

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