METHOD FOR QUANTIFYING THE STATISTICAL ANALYSIS OF ALTERNATIVE SPLICING IN RNA-SEC DATA Russian patent published in 2021 - IPC C12Q1/68 G16B30/00 

FIELD: biotechnology.

SUBSTANCE: method for detecting differences in the frequency of exon inclusion by analyzing RNA sequencing data is described. According to the method: a) RNA sequencing data consisting of a set of readings is obtained from at least one sample, while the sample is obtained from a subject belonging to a certain biological species; b) information is obtained about the reference genomic DNA of an organism belonging to the specified biological species, which contains gene sequences; c) the specified gene sequences are divided into segments, with each segment contains a gene fragment between the two closest splicing sites; d) the obtained sets of readings are mapped to the specified gene sequences, and for each segment, readings containing a sequence that corresponds to the sequence of this segment are determined; e) for each segment, the number of “inclusive” readings confirming the presence of this segment in the RNA sequencing data is determined, the number of “exclusive” readings refuting the presence of this segment in the RNA sequencing data is also determined, and based on these two numbers, the frequency of exon inclusion corresponding to this segment is calculated. The obtained results can be used in medical diagnostics in the study of alternative splicing disorders and their associations with certain diseases or conditions.

EFFECT: technical result of the invention is an increase in the speed of analysis of RNA sequencing data and reduce in the time that a specialist spends to interpret the results obtained.

2 cl, 1 dwg