METHOD AND SYSTEM FOR DETECTING VARIATION OF NUMBER OF COPIES IN GENOME Russian patent published in 2016 - IPC C12Q1/68 C12N15/10 G06F19/00 

FIELD: genomic.

SUBSTANCE: group of inventions relates to genomic. Invention discloses method for detection of variations of number of copies in genome sample and system, used for implementation of method. Method for detection of variations of number of copies in genome sample, involves following steps: sequencing genome sample to obtain sequencing result in form of multiple reads; mapping sequencing result to reference genome sequences for establishing distribution reads in reference genomic sequence; determining plurality of points in reference genome sequence, based on distribution of reads in reference genome sequence, where number of reads is considerably in both sides of break points; determining detection window in reference genome sequences based on plurality of break points; determination of test parameter based on reads falling in detection window; and determining variation of number of copies in window for detecting genome sample based on differences between test parameter and specified threshold value. System comprises sequencer, analyzer, mapping unit, unit for detection of break points, unit for determining detection window, parameter determining unit, detection unit.

EFFECT: using given inventions enables to efficiently determine the presence of various variations of number of copies in genome sample.

19 cl, 5 dwg, 3 tbl, 2 ex