METHOD AND SYSTEM FOR DETERMINING WHETHER COPY NUMBER VARIATION EXISTS IN SAMPLE GENOME, AND COMPUTER READABLE MEDIUM

摘要

Provided are a method for determining whether a copy number variation exists in a sample genome, a system applied to implement the method, and a computer-readable medium. The method for determining whether a copy number variation exists in a sample genome comprises the steps of: sequencing the sample genome to obtain a sequencing result formed by multiple sequencing sequences; comparing the sequencing result with a reference genome sequence, so as to determine the distribution of the sequencing sequences on the reference genome sequence; determining, based on the distribution of the sequencing sequences on the reference genome sequence, multiple breakthrough points on the reference genome sequence, wherein the numbers of the sequencing sequences on either side of each breakthrough point are significantly different; determining, based on the multiple breakthrough points, a detection window on the reference genome; determining, based on the sequencing sequences falling in the detection window, a first parameter; and determining, based on the difference between the first parameter and a predetermined threshold, whether a copy number variation exists in the sample genome with respect to the detection window.