Fig 1. Summary of conotruncal heart defects data cohorts.
The participants were recruited from the Children’s Hospital of Philadelphia (CHOP) and the Pediatric Cardiac Genomics Consortium (PCGC). CHOP-Trios and PCGC-Trios were analyzed using eFBAT-MM whereas SKAT-C was used to analyze the two case-control cohorts (CHOP-CC1 and CHOP-CC2). The cases in CHOP-CC1 are the Caucasian subset of cases in CHOP-Trios. One of 483 Caucasian cases was excluded during QC procedures prior to SKAT-C analysis.