FIELD: biotechnology; medicine.
SUBSTANCE: described is a method for sequencing genomic loci comprising two or more repeat sequences. Method is realized using a computer equipped with one or more processors and system memory for genotyping one or more repeat sequences. Each of the sequences contains one or more sub-sequences of repeats. Method includes: obtaining a sequence graph, where the sequence graph has a graph data structure with vertices representing nucleotide sequences, and the directed edges connect the vertices, and wherein the sequence graph contains two or more proper simple cycles, wherein each proper simple cycle is a subsequence of repeats; alignment, using one or more processors, of reading sequences of the analyzed sample on a reference genome to determine genomic coordinates of reading sequences and selecting a subset of reads of sequences; and aligning, using one or more processors, a selected subset of reads of sequences with two or more sequences of repetitions, represented by a sequence graph representing a genomic locus. Also disclosed is a corresponding system for sequencing genomic loci, including two or more sequences of repeats.
EFFECT: invention enables to genotype sequences of repeats, including short tandem repeats (CTR), which are significant from a medical point of view.
10 cl, 7 dwg, 1 tbl
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