Method and device for detecting copy number variation and storage medium

Abstract

The invention discloses a method and a device for detecting copy number variation and a storage medium. The detection method comprises the following steps: acquiring DNA sequencing data of a to-be-detected sample and comparison data of the DNA sequencing data at each position on a human reference genome; counting the depth of the DNA of the sample to be detected in the fixed window area; extracting a data sequence with abnormal comparison as a first dimension result supporting copy number variation; extracting a window of which the depth is different from that of the distribution statistical model of the DNA window of the to-be-detected sample; judging whether the difference of the difference window is significant or not and whether a first dimension result support can be obtained or not;and outputting a detection result. According to the detection method, true and false copy number variation can be accurately distinguished through the distribution statistical model of the DNA of a healthy population, and the accuracy of the copy number variation detection result is ensured from different perspectives in combination with the result of another dimension. According to the detectionmethod, no genetic control sample is needed, and copy number variation detection can be carried out on a single sample.

Description

technical field [0001] The present application relates to the field of copy number variation detection, in particular to a method, device and storage medium for detecting copy number variation. Background technique [0002] Copy number variation (CNV) is caused by genome rearrangement, generally refers to the increase or decrease of the copy number of large genome fragments with a length of more than 1kb, mainly manifested as submicroscopic deletions and duplications. CNV is an important part of genome structural variation (SV). The mutation rate of CNV loci is much higher than that of SNP (Single nucleotide polymorphism), which is one of the important pathogenic factors of human diseases. [0003] With the rapid development of next-generation sequencing technology, it is gradually applied to the scientific research and clinical detection of cancer and genetic diseases, giving us a new understanding of the occurrence, development, clinical manifestations and pathogenesis of...

AI Technical Summary

Problems solved by technology

This method has the following inevitable inherent limitations: 1. Breakpoint information cannot be found clearly; 2. The throughput is low, and only a small number of areas can be detected at a time, so high-throughput experiments cannot be carried out; 3. Only for Designing probes for target regions for detection cannot achieve the purpose of genome-wide screening

However, the copy number variation detection method based on next-generation sequencing also has inevitable limitations: 1. Due to the existence of homologous sequences in the genome, alignment errors are caused; 2. The PCR process of the experiment will have different DNA templates. 3. Chromosomal copy number variation detection based on next-generation sequencing (abbreviated as CNV-seq) relies on the parental / maternal normal control samples of the samples to be detected , it is difficult to detect in the case of a single sample

Images