Figure 1
From: Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect
Mutation burden analysis across 112 genes with biological relevance to atrioventricular septal defect (AVSD). All rare, nonsynonymous variants in the gene were collapsed for each individual to allow a patient-level analysis. Odds ratio (OR) for the number of individuals with rare nonsynonymous, rare damaging nonsynonymous, and synonymous variants across 112 genes in the AVSD cohort compared with controls from the Exome Variant Server (EVS) and non-AVSD congenital heart defect (CHD) cohort with P values are shown. The AVSD cohort showed enrichment of rare nonsynonymous variants (OR: 1.5; P = 4.7 × 10−11) and rare damaging nonsynonymous variants (OR: 1.3; P = 0.01) compared with the EVS cohort. The AVSD cohort showed a similar enrichment of rare nonsynonymous variants (OR: 2.3; P = 2.2 × 10−14) and rare damaging nonsynonymous variants (OR: 2.1; P = 2.1 × 10−6) compared with the non-AVSD CHD cohort. There was no difference in rare synonymous variants between the cohorts (AVSD versus EVS, OR: 1.0; P = 0.9 and AVSD versus non-AVSD CHD, OR: 1.2; P = 0.2).
