Gene fusion mutation library construction method, gene fusion mutation detection method, gene fusion mutation detection device, equipment and storage medium

Abstract

The present invention relates to a gene fusion mutation library construction method, a gene fusion mutation detection method, a gene fusion mutation detection device, computer equipment and a computerstorage medium. The above-mentioned gene fusion mutation library construction method and the gene fusion mutation detection method and device are based on a DNA probe hybridization capture multi-geneRNA targeted sequencing technology, through a fusion gene capture probe hybridization capture target fusion gene, the gene fusion mutation library is constructed, the library can be used for high-throughput sequencing and bioinformatics analysis can identify core genes and partner genes there of constitute breakpoints. Furthermore, the present invention also designs a quantitative analysis methodof the fusion gene, a mutation ratio of the fusion gene can be obtained by calculation, accurate expression value of the fusion gene can be further obtained, and the quantitative analysis method of the fusion gene is pioneering and solves a quantitative analysis problem of using a NGS method to detect the fusion gene.

Description

technical field [0001] The invention relates to the technical fields of molecular biology and bioinformatics, in particular to a gene fusion variation library construction method, detection method, device, equipment and storage medium. Background technique [0002] Cytogenetic studies have found that in a series of blood tumors, including AML, ALL, CML and NHLs, there are multiple chromosomal translocations, which lead to abnormal expression of oncogenes and / or transcriptional expression of fusion genes, which promote the transformation and survival of cancer cells . These core driver genes (such as MLL, ALK, etc.) often have multiple fusion gene partners (partners), and may also have different breakpoints with the same fusion gene, thus forming different subtypes. For example, there are 54 types of MLL genes Known fusion partners, and there are as many as 15 fusion subtypes of the KMT2A-AFF1 fusion gene included in the COSMIC database (https: / / cancer.sanger.ac.uk / cosmic / fu...

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Problems solved by technology

Both of them detect a single specific type of known gene fusion, which has a narrow scope of application and low efficiency, and cannot detect new gene fusion variants

Therefore, the insufficiency of fusion gene detection technology still limits the auxiliary diagnosis and precision medicine of hematological malignancies.

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