Method and system for detecting copy number variation

摘要

Disclosed are a method and a system for detecting genome copy number variation, which relates to the technical field of bioinformatics. The method comprises obtaining a read sequence; determining sequence labels according to the read sequence; counting the number of sequence labels falling into each window; performing GC correction on the sequence label number of each window and performing amendment according to an expected sequence label number amended with a contrast sample set to obtain an adjusted sequence label number; selecting a demarcation point with a small significance value as a candidate CNV breaking point; rejecting the least significant candidate CNV breaking point at every turn, updating difference significance values of two candidate CNV breaking points on the left and right of the rejected candidate CNV breaking point and performing cyclic iteration until difference significance values of all candidate CNV breaking points are smaller than a termination threshold value, thereby determining a CNV breaking point. The method and the system of the present invention have clinical feasibility, and can precisely detect a micro-deletion/micro-repetition area of 0.5 M under the situation of using data of about 50 M.