Gene fusion detection device

A gene fusion and sequencing technology, applied in special data processing applications, instruments, electrical digital data processing, etc., can solve the problems of low false positives, high resource requirements, slow detection speed, etc., to reduce the number of comparisons and reduce resource requirements. , the effect of improving stability

Active Publication Date: 2018-07-06
ANNOROAD GENE TECH BEIJING +2
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  • Abstract
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

CREST is currently one of the mainstream algorithms for detecting Fusion genes. Its main advantage is low false positi

Method used

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  • Gene fusion detection device

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Embodiment 1

[0103] Embodiment 1 The device for detecting gene fusion of the present invention

[0104] The device for detecting gene fusion in this embodiment has:

[0105] The sequencing data acquisition module is configured to acquire sequencing data; the sequencing data is the sequencing data obtained by using a paired-end sequencing (Paired-end Sequencing, PE sequencing) method.

[0106] Comparison module: it is connected with the sequencing data acquisition module, and is used to compare the obtained sequencing data with the reference sequence, and obtain the corresponding positions of the sequencing fragments in the gene; this module uses bwa software to find the sequencing fragments in the gene The corresponding position in the file, and form a bam format file; the bam file includes description information (qname), sequence information (seq), alignment position (POS), bit identifier (flag), and alignment quality value of each sequenced fragment in the bam file (MAPQ), brief compar...

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Abstract

The invention relates to a gene fusion detection device. The device comprises a sequencing data acquisition module, a comparison module, a discrimination module, a true fusion breakpoint judgment module and an output module. The gene fusion detection device has the advantages of being high in detection speed, low in resource requirement and high in stability.

Description

technical field [0001] The invention relates to the field of gene fusion detection, in particular to a device and method for detecting gene fusion. Background technique [0002] Fusion gene is a kind of chromosomal structural variation that is clinically very important and plays a key role in the development of cancer. Accurate fusion gene detection results can provide a reference for clinical anti-cancer target drug treatment and prognosis assessment. [0003] The detection techniques traditionally used to detect fusion genes are mainly based on genetic methods, such as FISH. However, relatively low resolution and throughput limit the application of this method in the detection of complex epithelial cancers. [0004] With the development of next-generation sequencing technology, a large number of algorithms for detecting fusion genes have emerged. In the gene fusion detection algorithm, the confirmation of the breakpoint directly affects the judgment of the detection res...

Claims

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Application Information

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IPC IPC(8): G06F19/20
CPCG16B25/00
Inventor 董永芳荆瑞琳董超王旺玄兆伶李大为梁峻彬陈重建
Owner ANNOROAD GENE TECH BEIJING
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