Fig. 4: Quality assessment of the SV dataset based on Mendelian inheritance.

a Mendelian inheritance error (MIE) ratio per trio. The MIE ratio was calculated for each trio. Each boxplot has a box that represents the interquartile range (IQR) and whiskers that extend 1.5 × IQR from the box edges. The median is shown in a horizontal line in the box. Outliers are shown in dots. n = 111 for both DEL and INS. b Scatterplot showing the relationship between the sequencing coverage and the MIE ratio. The minimum coverages among three individuals who belong to a trio and the MIE ratio observed in the trio are plotted on the x- and y- axes, respectively. n = 111 for both DEL and INS. c Distribution of genotype calls in parent–offspring trios. 0 and 1 denote the reference and alternative alleles, respectively. Genotypes of the parents are shown on the y axis, and the frequencies of each genotype (0/0, 0/1, and 1/1; red, blue, and green, respectively) that were expected (Exp) and observed in DELs (DEL) and INSs (INS) are shown. The number of pairs tested are shown on the right.