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High-throughput sequencing data processing method, processing device, storage medium and processor

A technology for sequencing data and processing methods, which can be used in instruments, sequence analysis, proteomics, etc., and can solve the problem of many false positive sites in processing results.

Active Publication Date: 2020-11-27
BEIJING ACCB BIOTECH
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  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] The main purpose of the present invention is to provide a processing method, processing device, storage medium and processor for high-throughput sequencing data, so as to solve the problem of many false positive sites in the existing processing results

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  • High-throughput sequencing data processing method, processing device, storage medium and processor
  • High-throughput sequencing data processing method, processing device, storage medium and processor
  • High-throughput sequencing data processing method, processing device, storage medium and processor

Examples

Experimental program
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Effect test

Embodiment 1

[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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Abstract

The invention provides a high-throughput sequencing data processing method, processing device, storage medium and processor. The processing method includes obtaining a secondary sequencing sequence, which is a sequencing sequence that can be identified by the target fragment amplification primer in the high-throughput sequencing data and removes the corresponding amplification primer; comparing the secondary sequencing sequence with the reference The genome sequence is used to obtain the primary variation result; and the mutation data in the known mutation data is used to correct the primary variation result to obtain the processing result. By removing the primer part in each sequence from the raw data obtained by high-throughput sequencing according to the known primer information, the false positive processing results caused by primer mutations in the overlapping regions of the amplification products are reduced. It can also remove some wrongly amplified sequences in high-throughput sequencing data, which not only improves the accuracy of subsequent analysis, but also helps to reduce the overall data volume and improve analysis efficiency.

Description

technical field [0001] The present invention relates to the field of high-throughput sequencing data processing, in particular, to a high-throughput sequencing data processing method, processing device, storage medium and processor. Background technique [0002] At present, there are many methods for gene sequencing to detect mutations. Among them, it is an efficient and economical common method to amplify specific target regions through multiple amplification and perform high-throughput sequencing on the products. However, the high-throughput sequencing process will generate a large amount of sequence information. Therefore, how to quickly and accurately process these sequencing data information has become an urgent technical problem to be solved. [0003] Although there are many processing and analysis methods for high-throughput sequencing data in the prior art, these methods have the defect of low accuracy of processing results. Therefore, there is still a need to impr...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): G16B20/20G16B30/10G16B25/00
CPCG16B30/00
Inventor 李晖陈钊莫敏俐丁凤王淑娟
Owner BEIJING ACCB BIOTECH
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