Whole-Exome-Genetic Detection Solution
Introduction:
The exon contains the information needed to synthesize proteins. Although the human exome only accounts for about 1% of the human genome, more than 85% of the diseases caused by DNA variation come from the variation in the exome region at present. Compared with the whole genome sequencing, it is more simple, economical and efficient, and the coverage of the target region is also higher, which is convenient for mutation detection.
Through specific capture probes combined with high-throughput sequencing technology, it can meet the needs of different scenarios such as genetic disease screening, tumor gene detection, and disease scientific research.
Solution Feature：
(1)High-Efficiency&Accurancy
Only exons (approximately 1% of the genome) were tested, but more than 85% of known disease-causing mutations were covered.
(2)High Sensitive&High Throughput
The exonic regions of >20,000 genes were detected at a time;
It can be found single-base mutation (SNV), small insertion loss (Indel), CNV, MSI;
The sensitivity of 1% mutation frequency (tumor samples can be as low as 5%).
(3)Economicial
Lower than WGS price, get a lot of clinically useful information with high data utilization.
(4)Strong Clinical Practicality
It has a wide range of applications, including genetic disease diagnosis, tumor detection, reproductive health, and personalized medicine.
Solution Process：
