Analysis system for gene copy number variation

Abstract

The invention provides an analysis system for gene copy number variation. The system comprises an analysis module, a division module, a statistics module, a window computing module and a picture module, wherein the analysis module is used to read in an index document and a reference genome of data, and make comparison; the division module is used to divide a sam document of a comparison result of the whole genome according to chromosomes; the statistics module is used for statistics of a comparison result of comparison sequencing data; the window computing module is used to compute an average covering depth of each window on the genome with 1KB as the window, and results are given in the form of a list; the picture module is used to draw a chromosome covering depth picture according to computing results; and the analysis module is a major module which successively calls other modules to complete each part of analysis work. The system provided by the invention has the advantages that the copy number variation on a human genome level can be accurately analyzed by high-throughput sequencing data, and high-resolution pictures can be displayed; and the statistics can be carried out to data comparison information, so that data assessment becomes convenient.

Description

technical field [0001] The invention belongs to the field of gene information data processing, in particular to a gene copy number variation analysis system. Background technique [0002] Human gene copy number variation is one of the most important causes of various diseases, especially the occurrence and development of tumors. In recent years, with the rapid development of high-throughput sequencing technology, the cost of sequencing has been greatly reduced, and the analysis of gene copy number variation based on whole genome sequencing has increasingly become a routine method for clinical testing and scientific research. Accurate detection and analysis of gene copy number variation has also become one of the common problems faced by bioinformatics workers. [0003] High-throughput sequencing technology amplifies and sequences a random region with a length of 200-500bp on the genome, and uses the read length (reads) obtained by sequencing to characterize the copy number ...

AI Technical Summary

Problems solved by technology

However, most of the current copy number variation analysis software does not exclude the highly complex region near the centromere of the genome and the gap region of the reference genome, resulting in high false positives and low accuracy of detected copy number variation

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