Method for visualizing gene sequencing variation sites
A technology of mutation sites and gene sequencing, applied in data visualization, sequence analysis, special data processing applications, etc., can solve the problems of long time-consuming, heavy workload of comparing information pictures, heavy identification workload, etc., and achieve efficiency Improve, avoid manual operation, and avoid the effect of repeated cycle comparison
Active Publication Date: 2018-04-20
广州漫瑞生物信息技术有限公司
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[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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[0038] In order to better illustrate the purpose, technical solutions and advantages of the present invention, the present invention will be further described below in conjunction with the accompanying drawings and specific embodiments. Those skilled in the art should understand that the specific embodiments described here are only used to explain the present invention, and are not intended to limit the present invention.
[0039] figure 1 It is the main flow chart of the visualization method of gene sequencing variation sites provided by the present invention. The method for visualizing gene sequencing variation sites of the present invention comprises the following steps:
[0040] (1) Multiple reads of the original sequencing data are compared to the reference genome according to the BWA comparison algorithm, and the position information of the reads compared to the reference genome is obtained;
[0041] (2) sorting the files according to the comparison of the genome posit...
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The invention discloses a method for visualizing gene sequencing variation sites. The method includes the following steps: (1) obtaining reads comparison to reference genome position information; (2)sorting comparison files according to the genome position information obtained in the step (1); reading related information related to variation sites, and saving the reads covering the variation sites; (4) sorting the reads saved in the step (3) according to the selected variation sites; (5) statistically analyzing comparison results and variation site information, and outputting a visual chart containing the comparison information. According to the method, comparison sequences covering the variation sites can be quickly found, to generate and output a picture containing all comparison information, and thus whether the variation sites are false positive or false negative sites 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...
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Login to View More IPC IPC(8): G06F19/26G06F19/22G16B45/00
CPCG16B30/00G16B45/00
Inventor 龚浩车健为
Owner 广州漫瑞生物信息技术有限公司