A Visualization Method of Gene Sequencing Variation Sites

Abstract

The invention discloses a method for visualizing gene sequencing variation sites, the method comprising the following steps: (1) acquiring reads and comparing them to reference genome position information; (2) comparing and comparing the genome position information obtained according to step (1) Sorting the files; (3) Read the reads information related to the mutation site, compare the overlap of the coverage of the mutation site and the reads by the two-way jump method, and save the reads covering the mutation site; (4) According to the selected mutation The site sorts the reads saved in step (3); (5) statistically analyzes the comparison results and variation site information, and outputs a visual chart containing the comparison information. The invention can quickly find the comparison sequence covering the variation site, generate and output a picture containing all the comparison information, so as to identify whether the variation site is a false positive or false negative site caused by sequencing, sequence comparison and other reasons through the comparison information .

Description

technical field [0001] The invention relates to the technical field of biological information processing, in particular to a method for visualizing gene sequencing variation sites. Background technique [0002] Tumor circulating tumor DNA (ctDNA) is a DNA molecule released by free cancer cells in the blood during apoptosis. These DNA molecules carry mutations that are characteristic of cancer cells. The DNA molecules released by cancer cells of different tumors into the blood have different variations; the same tumor has different variations in the ctDNA molecules released into the blood at different development stages; cancer patients have different variations in ctDNA molecules before and after treatment, so ctDNA molecules Variation is a dynamic process of change. Since DNA molecules released by cancer cells account for only a small fraction of cell-free DNA in blood, the frequency of mutations detected by ctDNA is low (typically less than 1%). In order to detect the v...

AI Technical Summary

Problems solved by technology

[0004] The purpose of the present invention is to address the deficiencies of the prior art and provide a visualization method for gene sequencing mutation sites, which solves the problem of the large workload of identification of mutation sites, the heavy workload of generating and outputting pictures containing comparison information, and the long time spent The problem

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