Method, electronic device and computer storage medium for detecting gene fusion at rna level

Abstract

The invention relates to a method for detecting RNA level gene fusion, electronic equipment and a computer storage medium. The method comprises the following steps: receiving whole genome comparison information and whole transcriptome comparison information; clustering the paired maladjusted read lengths to generate a plurality of large clusters; carrying out whole-genome-level gene annotation onthe large clusters meeting a first preset condition so as to generate first gene combination names for identifying the large clusters based on the corresponding genes; based on the whole transcriptomecomparison information, performing whole transcriptome-level gene annotation on the plurality of paired read lengths so as to generate a second gene combination name for identifying the plurality ofpaired read lengths based on the corresponding gene; and identifying the same corresponding genes associated with the first gene combination name and the second gene combination name so as to determine the same corresponding genes as potential fusion genes. The method is beneficial to rapid and correct recognition of false positive results, and the false positive results of a gene fusion detectionresult can be obviously reduced.

Description

technical field [0001] The present disclosure generally relates to biological information detection processing, and in particular, to methods, electronic devices, and computer storage media for detecting gene fusions. Background technique [0002] Gene fusion (Fusion gene) is the process in which two or more genes partially or completely form a new hybrid gene, which is one of the important mechanisms leading to the occurrence and development of cancer. For example, LOXO-101, a targeted drug targeting NTRK fusion targets, has a wide range of drug effects on pan-cancer species, and data show that it can achieve an overall cancer control rate of 70-80%. Therefore, gene fusion detection is of great significance for tumor prediction and targeted drug design for clinical tumor treatment. Traditional fusion detection solutions based on RNA-level next-generation sequencing technology include, for example, using whole-transcriptome sequencing or using a predefined panel to screen f...

AI Technical Summary

Problems solved by technology

[0003] In the traditional fusion detection scheme, many candidate fusions will be generated in the result file of a single sample, and the authenticity of these candidate fusions cannot be directly judged. Therefore, there are a large number of false positives, which cannot be directly satisfied. Accurate requirements for clinical testing

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