Fig. 2

Illustrates the pipeline of whole genome data analysis. a The count distribution of variants (SNVs and InDels) from WGS clean data for each individual in the family. The variants were classified into distinct classes according to the genomic regions. b The count distribution of variants of unknown significance that do not exist in the dbSNP137 and 1000 Genome Project. c the proportion distribution of SNVs and InDels, both of which are shared by two affected siblings. For each group, the variants were divided into different classes according to genomic regions. d the distribution of potentially pathogenic mutations classified by mutation functions