Transcriptome-based tumor neoantigen identification method

Abstract

The invention discloses a transcriptome-based tumor antigen identification method. The method comprises four steps of: obtaining an RNA sample of a patient tumor tissue, and carrying out library construction and amplification on the RNA sample to obtain an RNA sample sequencing result of the tumor tissue; aligning short read segments of the RNA sample sequencing result to a human reference genometo obtain an RNA alignment result; calculating gene expression quantity according to the RNA alignment result, and carrying out mutation detection and prediction of fusion gene events according to theRNA alignment result; and predicting transcriptome HLA typing according to the alignment result, wherein calculation of the gene expression quantity, mutation detection and prediction of the fusion gene events are carried out according to a specified order or simultaneously carried out; and using the gene expression quantity of a transcriptome sample, depth of transcriptome mutation sites in a whole-exon sequencing sample and binding force of neonatal short peptides and the patient HLA typing as an analysis result to submit the same to a downstream analyst. The invention provides the method capable of identifying a tumor-specific antigen of an individual sample from tumor patient transcriptome NGS data.

Description

technical field [0001] The invention relates to a biological information identification method of tumor neoantigens. Background technique [0002] The current routine gene variation detection techniques include Sanger sequencing, pyrosequencing, amplification retardation analysis system (ARMS), fluorogen-based hybridization technology and allele-specific PCR. These genetic testing methods generally have low throughput, high cost and time-consuming. [0003] With the advent of Next-Generation Sequencing (NGS), massively parallel sequencing has become possible. Compared with the first-generation sequencing technology, NGS technology has fast detection speed, high accuracy, low cost and wide coverage. NGS technology can be used to resequence the tumor genome sequence, and then identify different types of mutations (point mutations, insertions, deletions, etc.), copy number variations, gene correlations and polymorphisms of tumor-related genes. At present, tumor NGS detection...

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Problems solved by technology

These genetic testing methods generally have low throughput, high cost and time-consuming

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