DETECTION OF SOMATIC VARIATION OF NUMBER OF COPIES Russian patent published in 2022 - IPC G16B25/00 G16B20/10 G16B20/20 G16B30/00 

FIELD: biotechnology.

SUBSTANCE: described is a copy number normalization method comprising: sequencing one or more regions of interest from a plurality of basic biological samples, which do not match the biological sample; determining the copy number normalization information using the basic sequencing data; further clustering said plurality of basic biological samples to identify different clusters in said plurality of samples based on the number in the resolution element; and using the median value of the resolution element of at least one cluster to obtain a baseline of the number of copies for each resolution element; providing a user with copy number normalization information for normalizing new sequencing data of a new biological sample; where variations in number of copies for each region of interest are characterized in normalized new sequencing data, and where said each separate resolution element from said plurality of resolution elements in said new sequencing data is normalized based on the corresponding baseline number of copies for each resolution element to obtain said normalized new sequencing data.

EFFECT: invention broadens the possibilities of using sequencing technologies.

23 cl, 2 tbl, 30 dwg