Fig. 1.

The schematic diagram of systematic data analysis of the PA-associated genes/variants. An analytical strategy workflow of the different steps taken during whole-exome sequencing analysis with gene expression detection is shown. After variant calling and annotation, variants were then filtered by variant-based association analysis, gene-based burden analysis. Candidate genes were collected by gene expression analysis and network analysis. WES, whole-exome sequencing; PA/VSD, pulmonary atresia with ventricular septal defect; PA/IVS, pulmonary atresia with intact ventricular septum; TOF, tetralogy of Fallot; SNP, single nucleotide polymorphism; MAF, minor allele frequency; FDR, false discovery rate.