1. Performance in capture reaction.

90 samples were collected, DNA extraction, library construction and hybridization capture were carried out using kits provided by our company, and the sample sequencing data were analyzed by QKGEN® Per_SNP test system. The average hit rate was as high as 75.13%, and the uniformity was over 99.5%, showing good capture efficiency.

2. Evaluation of SNP site detection in sequencing quality.

In the case of an average sequencing volume of 1G, the average Q30 is greater than 90%, the average sequencing depth before weight removal is 1000×, and the SNP coverage depth on each chromosome can still reach more than 750× after weight removal.

3. Sensitivity of the complete solution of this product.

In order to detect the sensitivity of small fragments of free nucleic acid, we simulated fetal free nucleic acid with different proportions (for example, when the proportion was 2%, the nucleic acid content was about 0.02ng), and used this solution to conduct library construction and hybridization capture experiments, and analyzed the sequencing results. When the sequencing depth threshold was set to 100× and the proportion of fetal free nucleic acid was 2%, more than 4000 SNPs could still be successfully detected, more than 600 SNPS were effective for analysis, and the average sequencing depth was greater than 500 ×. As a result, this product can detect DNA samples as low as 0.02ng of fetal free nucleic acid initiation.

4. Accuracy of the complete solution of this product.

In order to simulate the samples collected in various application scenarios, we collected different types of samples from the same individual, including peripheral blood, hair follicle tissue, fingernails, etc. This solution is used to carry out DNA extraction, library construction and hybridization capture experiments on different types of samples, and analyze the sample sequencing results. The analysis system of this solution can correctly judge that these samples are from the same individual with an accuracy of 99.999999%.