摘要 |
FIELD: biotechnologies.SUBSTANCE: group of inventions relates to biotechnology. Proposed are a method and a system for determining nucleotide sequence in a given region of a foetus genome. Method comprises the following steps: constructing a library for sequencing from genomic DNA sample from peripheral blood of a pregnant woman; sequencing the library for sequencing in order to obtain a sequencing result. Result of the foetus sequencing includes multiple data obtained during sequencing. Nucleotide sequence in a given region of the genome is determined by using hidden Markov model basing on the result of sequencing the foetus sequences in combination with genetic information upon a relative using Viterbi algorithm. System consists of a device of the library constructing, a sequenator and an analyzer.EFFECT: using the inventions enables performing a genetic typing of high accuracy.14 cl, 2 dwg, 1 tbl, 1 ex |