发明名称 METHOD AND SYSTEM FOR DETERMINING NUCLEOTIDE SEQUENCE IN GIVEN REGION OF FOETAL GENOME
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
申请公布号 RU2597981(C2) 申请公布日期 2016.09.20
申请号 RU20140150655 申请日期 2012.05.14
申请人 BGI Diagnosis Ko., Ltd. 发明人 CHEN SHenpej;GE KHuejtszyuan;LI KHuchao;I SHan;VAN TSzyan;VAN TSzyun;YAN KHuanmin;CHZHAN Syutsin
分类号 C12Q1/68 主分类号 C12Q1/68
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