Family analysis criteria for whole exon group detection. "Whole exon sequencing" is a kind of gene detection, which mainly detects the "exon" fragments of all genes, while "whole genome sequencing" is a kind of detection that covers all sequences including regulatory sequences, exons and introns as much as possible. The total length of exons in the human genome is very short, accounting for only about 65438 0% of the human genome, but more than 80% of the known pathogenic mutations occur in the exon group. "Whole Exon Sequencing" can screen more than 80% of pathogenic mutations with only 1% sequencing amount. This means that only by sequencing the whole exon, the amount of data to be read and the detection cost are significantly reduced. It is difficult to analyze regulatory sequences and intron mutations. There is little information about these two mutations, and sometimes even if mutations are detected, follow-up research is needed to determine the relationship between mutations and diseases.