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Whole exome sequencing (WES) refers to the use of sequence capture technology to capture and enrich the exon region DNA of the whole genome and then perform high-throughput sequencing, which can directly discover genetic variation SNPs related to protein functional variation (Single Nucleotide Polymorphism). Taking the human genome as an example, although the exon (protein coding region) only accounts for 1% of the genome, 85% of the pathogenic mutations in the human genome are in the exon region, so it is of great significance.
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