CALCULATION OF THE BURDEN OF TUMOUR MUTATIONS USING TUMOUR RNA SEQUENCING DATA AND CONTROLLED MACHINE LEARNING

摘要

FIELD: medicine.;SUBSTANCE: group of inventions relates to medicine, namely to the field of molecular diagnostics, personalised medicine and clinical oncology. Proposed is a method for calculating the tumour mutation burden (TMB) on a million base pairs based on the data on RNA sequencing from a tumour sample as an alternative for sequencing a full exome or a target gene panel. Filtration of mutations based on the data on RNA sequencing, used in software sets for identifying mutations, is supplemented by filtration after identifying and annotating mutations using machine learning with a true set of mutations, produced from tumours and corresponding normal tissues tested by sequencing a full exome.;EFFECT: group of inventions provides an increase in the correlation coefficient for TMB measured by means of RNA sequencing, an increase in the correlation coefficient between the TMBs measured by two different methods from 0.18 to 0.6.;14 cl, 12 dwg, 4 tbl, 2 ex