Exome sequencing refers to a genomic analysis method that applies sequence capture technology to capture and enrich the whole genome exon region DNA for high-throughput sequencing. Supported by high-throughput sequencing technology, exome sequencing enables direct discovery of genetic mutations associated with protein functional variation. Compared to whole genome resequencing, exome sequencing is more economical and efficient, and is more suitable for large-scale disease and cancer sample analysis. At present, exome sequencing technology has been applied to search for pathogenic genes and susceptibility genes associated with various complex diseases.
● High capture efficiency and good coverage to ensure accurate library and high quality data
● Highly-uniform Reads distribution to improve sequencing preference
● Self-developed genomic data analysis methods and algorithms to provide advanced analysis of multiple genetic diseases and tumor directions
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1. What are the strengths and weaknesses of exome sequencing compared to whole genome sequencing?
Accounting for only 1%-2% of genome, human exomes contain important information about protein synthesis, and are the most direct manifestation of gene function. Most diseases or trait-related mutations are located in the exon region. Compared to whole-genome resequencing, whole exome sequencing only targets DNA within the exon region and at the border, with deeper coverage, higher data accuracy, and more economical and efficient discovery of individual genetic variation and rare mutations related to disease or phenotypes. Human whole exome sequencing technology has been gradually applied to the study of single pathogenic genes and complex disease susceptibility genes. The shortcoming is that it only collects the variation information inside the exon region or near the border area, thus making it hard to detect large structural variation in the genome.
2. What are the depth requirements for exome sequencing?
When the sequencing depth is 6x, the coverage of the target area can reach 90%; when the depth is 100x, the coverage will be nearly saturated. Higher sequencing depth has little effect on coverage, but can increase the accuracy of detecting SNPs, InDels and rare pathogenic sites.