METHOD AND APPARATUS FOR DETECTING CHROMOSOMAL COPY NUMBER VARIATIONS, AND STORAGE MEDIUM

摘要

A method for detecting chromosomal copy number variations, comprising: obtaining sequencing data of a sample to be detected as data to be detected, and determining a target species corresponding to the data to be detected; obtaining the specific k-mer corresponding to each chromosome included in the target species stored in a target database; obtaining the actual occurrence number of the specific k-mer included in each chromosome in the data to be detected; obtaining the copy number of each specific k-mer from the target database; obtaining, according to the actual occurrence number and the copy number of each specific k-mer, the actual signal intensity of the corresponding chromosome by calculation; and determining chromosomes of which the actual signal intensities are not in a standard confidence interval of the corresponding chromosome as chromosomes having copy number variations.