METHOD AND SYSTEM FOR DETERMINING NUCLEOTIDE SEQUENCE IN GIVEN REGION OF FOETAL GENOME Russian patent published in 2016 - IPC C12Q1/68 

Abstract RU 2597981 C2

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

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RU 2 597 981 C2

Authors

Chen Shenpej

Ge Khuejtszyuan

Li Khuchao

I Shan

Van Tszyan

Van Tszyun

Yan Khuanmin

Chzhan Syutsin

Dates

2016-09-20Published

2012-05-14Filed