Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

The Deciphering Developmental Disorders study presents independent research commissioned by the Health Innovation Challenge Fund (grant HICF-1009-003), a parallel funding partnership between the Wellcome Trust and the UK Department of Health, and the Wellcome Trust Sanger Institute (grant WT098051). The views expressed in this publication are those of the author(s) and not necessarily those of the Wellcome Trust or the UK Department of Health. The research team acknowledges the support of the National Institutes for Health Research through the Comprehensive Clinical Research Network. The authors wish to thank the Sanger Human Genome Informatics team, the DNA pipelines team and the Core Sequencing team for their support in generating and processing the data. We would like to thank the Pediatric Cardiac Genomics Consortium (PCGC) and dbGAP for making the data publicly available. This study was supported by the German Center for Cardiovascular Research (DZHK) partner sites Berlin, Kiel and Competence Network for Congenital Heart Defects, National Register for Congenital Heart Defects. Participants in the INTERVAL randomized controlled trial were recruited with the active collaboration of NHS Blood and Transplant England, which has supported field work and other elements of the trial. DNA extraction and genotyping was funded by the National Institute of Health Research (NIHR), the NIHR BioResource and the NIHR Cambridge Biomedical Research Centre. The academic coordinating center for INTERVAL was supported by core funding from the NIHR Blood and Transplant Research Unit in Donor Health and Genomics, UK Medical Research Council (G0800270), British Heart Foundation (SP/09/002), and NIHR Research Cambridge Biomedical Research Centre. J.D.B., K.S. and A.K. are funded by British Heart Foundation Programme Grant RG/13/10/30376. A.W. is funded by a British Heart Foundation Clinical Fellowship FS/14/51/30879. D.R.F. is funded through an MRC Human Genetics Unit program grant to the University of Edinburgh. S.H.A.T., S.O.O. and R.M.A.-S. were supported by funding from King Abdullah International Medical Research Center (grant number RC12/037). J.B. was supported by the Klinisch Onderzoeksfonds UZ; B.T. was supported by the CHAMELEO Marie Curie Career Integration Grant; J.J.L. and M.G. Eddy Merckx Research grant. K.D. was funded by the GOA/2012/015 grant. A.K.M., D.M. and S.M. were supported by the Heart and Stroke Foundation of Ontario, Canadian Institutes of Health Research.