METHOD FOR ASSESSING STATUS OF 14TH EXON OF MET GENE ACCORDING TO RNA SEQUENCING DATA Russian patent published in 2024 - IPC G01N33/53 G01N33/574 

FIELD: biotechnology.

SUBSTANCE: described is a method for evaluating status of 14th exon of the MET gene by RNA sequencing data. Method comprises the steps of obtaining a biological material suitable for RNA sequencing, obtaining RNA sequencing data from the material, obtaining data on mapping reads to exons of the human MET gene, counting the number of SJ reads per junction of 13th and 15th exons and passed the quality control, and comparing it with threshold, user-defined and selected based on the required rigor and accuracy of determining the presence of such readings, calculating the normalized level of asymmetry of 13th, 14th and 15th exons and comparing it with a threshold defined by the user and selected based on the analysis of clinical samples, and analysing the results, in which, when all selected thresholds are overcome, a conclusion is made on the presence in the sample of the MET gene with skipping 14th exon.

EFFECT: improved detection of missing 14th exon of MET gene based on RNA sequencing data.

2 cl, 2 dwg, 4 ex