METHODS AND SYSTEMS FOR DETERMINING COPY NUMBER OPTIONS Russian patent published in 2021 - IPC G16B20/10 G16B30/00 G16B40/00 

FIELD: biotechnology.

SUBSTANCE: invention relates to biotechnology. An automated method for sequencing a nucleic acid is described, including: obtaining nucleic acid samples from a patient; sequencing nucleic acid samples obtained from a patient to get multiple genomic sequences; acquisition by a computer device of a sample coverage dataset comprising multiple genomic sequences obtained by sequencing patient nucleic acid samples and sample sequencing quality control (SSQC) parameters; grouping by a computer device of a set of sequencing quality control (SQC) parameters into a data structure in the form of a multidimensional tree based on similarity, each set of SQC parameters being associated with a corresponding reference coverage dataset, which includes many genomic regions and read depths; selection of the reference panel of the coverage reference dataset using a data structure in the form of a multidimensional tree, the selected reference coverage datasets having SQC parameters similar to the SSQC parameters; computerized normalization of sample coating and reference panel data; fitting by a computer device of a normalized reference panel to a mixed model for each of the multiple genomic regions to obtain the expected distribution of coverage in each of the multiple genomic regions; identification of one or more variants of the number of copies (VNC) using a computer comparison device, in accordance with the hidden Markov model (HMM), a set of normalized sample coverage data with the expected coverage distribution in each of the multiple genomic regions from the blended model; moreover, when sequencing a nucleic acid, data associated with the identification of one or more copy number variants are taken into account. The corresponding method for determining the copy number options is also presented.

EFFECT: new automated method for sequencing a nucleic acid is proposed.

18 cl, 15 dwg