Extended Data Fig. 7: Performance evaluation of Mendelian sample calling within high-confidence regions.

a, In high-confidence regions, comparison of the Mendelian consistency in six family datasets (left) and the twin discordancy in the ChineseQuartet (right). SVision-pro is compared to Sniffles2 (multi-sample mode) and SVision, cuteSV and debreak (followed by SURVIVOR and Jasmine merging). Each box contains six and three values for HiFi and ONT, respectively (Supplementary Table 5). The boxplot defines the median (Q2, 50th percentile), first quartile (Q1, 25th percentile) and third quartile (Q3, 75th percentile). The bounds of box, that is interquartile range (IQR), of the boxplot is between Q1 and Q3. The minima and maxima values are defined as Q1-1.5*IQR and Q3 + 1.5*IQR, respectively. The whiskers are values between minima and Q1 as well as between Q3 and maxima. Values falling outside the Q1 – Q3 range are plotted as outliers of the data. b, Venn diagrams show the overlapping results of high-confidence calls among approaches. We overlapped these high-confidence calls from each approach in AshkenazimTrio. there were only several unique calls (n = 12 and 4 when overlapping with SURVIVOR and Jasmine, respectively) from SVision-pro (9,348 in total), indicating that the leading consistency in Mendelian samples was attribute to the higher genotyping accuracy of SVision-pro compared to merging approaches.