Method, device, storage medium and processor for processing high-throughput sequencing data
A sequencing data, high-throughput technology, applied in instrumentation, sequence analysis, proteomics, etc., can solve the problem of inaccurate sequencing data processing results, and achieve the effect of improving uniformity
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Embodiment 1
[0096] The above four Cosmic DNAs are prepared into a DNA library containing the above mutation sites, and then high-throughput sequencing is performed to obtain sequencing data. After quality control of the sequencing data, post-quality control reads are obtained. Three mutation frequency libraries were constructed for each site, and each mutation frequency library was replicated three times for a total of nine detections.
[0097] By using the target region amplification primer 1 and target region amplification primer 2 of the present application to screen the reads after quality control, the reads that do not completely cover the target region are excluded, and the reads that completely cover the target region are obtained. The specific results are shown in Table 2 below. It can be seen from Table 2 that based on the high-throughput and high-quality data of next-generation sequencing, the number and ratio of reads retained after screening still have sufficient data to ensure...
Embodiment 2
[0103]dPCR (digital PCR) is considered to be the closest detection method to the real mutation at present. Through the library construction of the four mutation sites in Table 1, 3 mutation frequency libraries were constructed for each site, and each mutation frequency library was repeated 3 times, and a total of 9 detections were performed. Then, the dPCR analysis method, the existing (conventional) second-generation sequencing data processing method and the method of the present application are respectively used to detect the detection site, and the detection results are shown in Table 3 below.
[0104] table 3:
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[0107] Note: "-" indicates that the sample was not sequenced
[0108] As can be seen from the results in Table 3 above, for the normal locus of COSM6213, the detection results of the present application are similar to the results of the next-generation sequencing data processing method and the dPCR analysis method.
[0109] For Deletion at...
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