Fig. 1
From: Genome and epigenome analysis of monozygotic twins discordant for congenital heart disease
Overview of whole genome sequencing. a The numbers of SNVs and InDels detected in D3 and D4, 99.9% loci shared between the MZ twins. b There are 1736 SNVs or InDels specific in the disease sample D3, of which only 430 loci showing high confidence confirmed by Varscan are regarded as potential de novo SNVs/InDels. All loci are classified into 7 categories (upstream, downstream, intergenic, exonic, intronic, UTR5, UTR3) according to the relative position of nearby genes. The pie plot shows the number of loci and proportion of each category. c Normalized copy number profiles of D3 and D4. Each point shows a 5 kb window (chromosome 1) of sequencing reads normalized by GC-content and mappability using Control-FREEC