Method and system for accurately analyzing DMD gene structural variation breakpoint

Abstract

The invention discloses a method and a system for accurately analyzing a DMD gene structural variation breakpoint. The method includes steps of receiving of fragment sequences, initial comparison, repeat comparison, position analysis, analysis of suspected breakpoint, and in-depth correction; through the method, the type and the breakpoint position of DMD gene copy number variation can be accurately analyzed; the mean detection bias rate is less than 4 bp; the accuracy is high, and the stability is good; besides, the method and the system can cover the variation detection of an exon and an introne at the same time, solve the shortcoming that the breakpoint of the gene copy number variation cannot be accurately analyzed in the prior art, and provide technical support for realizing the rapid and parallel DMD breakpoint detection service and the study of the DMD structure gene variation molecular mechanism.

Description

technical field [0001] The invention belongs to the field of bioinformatics, and more specifically relates to a method and system for accurately analyzing DMD gene structure variation breakpoints. Background technique [0002] Duchenne muscular dystrophy (Duchenne muscular dystrophy, DMD) is a disease characterized by progressive atrophy and weakness of proximal skeletal muscles of the extremities, pseudohypertrophy of the gastrocnemius muscle of the calf, involving both the myocardium and respiratory muscles, and some patients are accompanied by intellectual disability. A fatal X-linked recessive genetic disorder with an incidence of 1 / 3500 male births. The onset of the disease is from 3 to 5 years old, the patient loses the ability to walk around the age of 12, and dies in his 20s. Becker muscular dystrophy (Becker muscular dystrophy, BMD) and DMD are mutually allelic heterogeneous diseases. At present, there is still no effective treatment for this disease at home and a...

AI Technical Summary

Problems solved by technology

[0005] 1. Cytogenetic methods: such as fluorescence in situ hybridization (FISH) and DNA fiber fluorescence in situ hybridization (stretched-fiber FISH), which have low resolution and are time-consuming and laborious;

[0006] 2. Targeted analysis methods based on PCR technology: such as multiple amplification probe hybridization technology (MAPH), ligation-dependent multiple probe amplification technology (MLPA), etc. This method has high resolution and low cost, but it is widely used low throughput;

[0007] 3. High-throughput analysis methods based on chips and sequencing: such as chip-based comparative genomic hybridization technology (array-CGH), chip-based probe technology, etc., can realize the detection of gene copy number differences. The rate is high, but it is difficult to accurately analyze the breakpoint position of gene copy number variation;

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