Genome structure variation detection method based on filtering and noise reduction

Abstract

The invention provides a genome structure variation detection method based on filtering and noise reduction. According to the genome copy number variation detection method based on filtering noise reduction, the characteristics of a chromosome sequence and the influence of the GC content of a base in the sequence on reading depth are considered; and on the basis of better preprocessing data, carrying out convolution operation on the read depth data and the Gaussian kernel function to obtain a scale space image function, carrying out edge detection and reference detection on the scale space image, determining candidate copy number areas, detecting copy number variation types and positions, and improving the copy number variation detection precision.

Description

technical field [0001] The invention relates to the field of bioinformatics, in particular to a genome copy number variation detection method based on filter noise reduction. Background technique [0002] The development of next-generation sequencing (New generation sequencing, NGS) technology is becoming more and more mature, various sequencing platforms emerge in an endless stream, the cost of gene sequence sequencing has dropped significantly, and the speed of sequencing is getting higher and higher, which makes the DNA sequence data generated by sequencing very Huge, the accuracy of data processing has become a top priority. [0003] Wavelet transform is a powerful tool to remove data noise in signal processing, and scale-space filtering is an important means to describe signals visually. For sequencing data in the field of bioinformatics, due to the high repeatability of the biological sequence itself and the inevitable errors in the sequencing process, it is often nec...

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However, the preparation of probes by this method is relatively com

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