Device for detecting blood disease fusion gene

Abstract

The invention discloses a device for detecting a blood disease fusion gene. The device comprises a sequencing module used for obtaining sequencing data of a tumor sample through next-generation sequencing; a data preprocessing module used for preprocessing the sequencing data obtained in the sequencing module; a candidate k-mers identification module used for identifying candidate k-mers possiblycomprising breakpoints in the sequencing data processed by the data preprocessing module; a local assembly comparison recognition fusion mode module used for extracting reads where a candidate k-mersset of the tumor sample is located and paired reads, and carrying out local assembly to obtain contigs; a fusion gene credibility prediction module used for predicting the fusion gene credibility; anda fusion result annotation module used for annotating the breakpoints obtained in the fusion gene credibility prediction module. By applying the technical scheme provided by the invention, various fusion variation types of multiple genes can be accurately identified.

Description

technical field [0001] The invention relates to the technical field of biology, in particular to a device for detecting blood disease fusion genes. Background technique [0002] The human genome consists of 23 pairs of chromosomes, including 22 pairs of somatic chromosomes, one X chromosome and one Y chromosome. The genome contains a total of about 3 billion DNA base pairs, including about 25,000 genes. function. Fusion gene refers to the splicing of two non-adjacent genes in the genome under the influence of natural or foreign environmental factors to form a new gene fragment. The occurrence of fusion genes often leads to sequence abnormality or protein function abnormality, which in turn leads to or promotes the occurrence and development of tumors. Many human diseases may be caused by gene fusion, including some genetic diseases, cancer and hematological tumors. Some gene fusions are important clinical features and prognostic factors of hematological tumors. [0003] I...

AI Technical Summary

Problems solved by technology

First, multiplex PCR or gel electrophoresis techniques can only detect known fusion types that have been designed, but cannot detect fusion types without designed primers. Short and easy to degrade, so it is more unstable, so there will be certain difficulties in the storage and transportation of samples

Images