Methods, devices, and media for presenting rearranged or fused structural subtypes

Abstract

The present invention relates to a method, apparatus and medium for presenting rearranged or fused structural subtypes. The method comprises the following steps: generating a gene annotation file comprising gene structure annotation information, wherein the gene structure annotation information at least indicates an exon or intron number, a gene name, an NM number used by each gene, a gene transcription direction and the total number of exons; determining a fusion support sequence of the gene fusion pair based on the double-end sequencing data of the paired sequence of the to-be-detected sample and the comparison result data of the reference genome sequence, so as to generate a comparison result file containing the fusion support sequence; loading the comparison result file and the generated annotation file into a genome browser; and obtaining a gene position where the breakpoint is located, so as to generate image data through a genome browser and determine a rearrangement or fusion structure subtype based on the generated image data. According to the method, the gene structure where the rearrangement breakpoint is located and the subtype structure formed after rearrangement can be read through a visualization method.

Description

technical field [0001] The present invention relates generally to the processing and visualization of biological information, and in particular, to methods, computing devices, and computer storage media for rendering rearranged or fused structural subtypes. Background technique [0002] The subtypes of rearrangement and fusion are clinically important. For example, the EML4-ALK fusion gene has multiple subtypes, and different EML4-ALK participating subtypes have different clinical target drug effects and prognosis. Visually showing the positions of rearrangements or fusions on involved genes A and B, and the resulting structures after rearrangement, has important clinical and evidence implications. [0003] Traditional solutions for presenting genomes, such as the genome browser igv software, can be used for visual presentation of high-throughput sequencing data. However, in the traditional scheme for presenting the genome, the presented annotation information only includes...

AI Technical Summary

Problems solved by technology

However, in the traditional scheme for presenting the genome, the annotation information presented only includes the name of the gene, and it is necessary to manually observe the corresponding exons on both sides of the breakpoint to read the gene and intron where the breakpoint is located or Exons, but cannot directly and quickly know the gene structure where the breakpoint is located and the new subtype after rearrangement

[0004]In summary, the traditional method for presenting the genome is difficult to visualize the gene structure where the rearrangement breakpoint is located and the subtype structure formed after the rearrangement

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