Device for detecting FFPE sample gene fusion

Abstract

The invention relates to a device for detecting an FFPE sample gene fusion. The device comprises a sequencing data obtaining module, a comparison module, a re-comparison module, a real fusion breakpoint judgement module and an output module. The device for detecting the FFPE sample gene fusion 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, and in particular to a device and method for detecting gene fusion of FFPE samples. Background technique [0002] The tissue samples prepared by the formalin-fixed and paraffin-embedded (FFPE) method are called formalin-fixed and paraffin-embedded tissue samples, or FFPE samples for short. FFPE samples can be stored for a long time, and they are often used in clinical pathology tests, tumor gene detection and medical scientific research, and are a reliable source of materials for molecular biology research. [0003] Around the world, there are approximately billions of tissue samples stored in hospitals or tissue sample banks. Most of them are FFPE samples. FFPE samples usually represent precious and widely sourced biomedical research materials. The huge number of archived FFPE samples provide valuable resources for retrospective research, elucidating disease mechanisms, discovering therapeutic ta...

AI Technical Summary

Problems solved by technology

CREST is currently one of the mainstream algorithms for detecting Fusion genes. This algorithm uses the assembly algorithm to achieve two assemblies to eliminate false positives. Therefore, its main advantage is that the false positives are low, but at the same time, due to the need for two assemblies, the detection speed is slow , high resource requirements, need to assemble and other shortcomings; at the same time, the assembly effect will also be affected by the coverage and the length of the insert

Due to the high degradation factors in FFPE samples, the fragment length is shorter and the coverage is reduced, which has a greater impact on the length of the assembled fragments, thus affecting the fusion detection results

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