FIELD: biotechnology.
SUBSTANCE: method for identifying somatic mutations in a plurality of variants is described, including: obtaining a plurality of variants containing somatic mutations and germline variants; applying a database filter to a specified set of options. The following is carried out: determination of the first germline variants in the specified set of variants, and each of the specified first germline variants has a number of alleles in the first reference set of variants, which is greater than or equal to the threshold number of alleles. Next, a proximity filter is applied to the specified set of variants, including: grouping variants from the specified set of variants into a plurality of groups, with variants located in the same region of the genome being grouped into the same group, identifying variants from the database in the specified set of variants wherein the variant from the database is present in the second reference set of variants, and identifying second germline variants in said plurality of variants, wherein each of said second germline variants has an allele frequency within the approximate allele frequency range of the at least one variant from the database in the same group as the specified second germline variant. Somatic mutations in said plurality of variants are then determined by removing said identified first and second germline variants from said plurality of variants. A method for determining tumour mutational burden for a tumour is also disclosed, comprising: obtaining sequence data from a biological sample containing a tumour cell; determining a plurality of variants based on said sequence data; and determining the number of somatic mutations in said plurality of variants in accordance with the above method, wherein said number of somatic mutations represents the tumour mutational burden of the tumour. A computerized method for identifying somatic mutations in a variety of variants is also described.
EFFECT: invention expands the arsenal of tumour diagnostic tools.
42 cl, 11 dwg, 3 tbl, 5 ex
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