Processing method and processing device of high-throughput sequencing data, storage medium and processor
A processing method and technology for sequencing data, which can be used in electrical digital data processing, special data processing applications, instruments, etc., and can solve the problem of many false positive sites in processing results.
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[0101] Example 1: Detection of mutation information in targeted sequencing products of the human genome
[0102] Using the method and device of the present application, the sequencing data of 33 genes obtained from 216 cases of targeted sequencing were analyzed. These included 170 cancer patient samples (whole blood, FFPE, pleural effusion, fresh tissue), 32 whole blood samples from healthy unpaid blood donors, and 14 quality control samples (external quality assessment samples, Horizon standard). The Ion PGM sequencing platform was used for sequencing, and BAM sequencing files of 216 samples were obtained.
[0103] Wherein 1 cancer patient (FFPE), 1 case of horizon standard product, 1 case of healthy person through the specific results of the detection of the present invention and Torrent Suite specific detection results are compared in the following Table 1 and Table 2. Among them, Table 1 shows the detection results of sample 1 (cancer patient, FFPE) using the method of th...
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