首页> 外国专利> METHODS FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS AND A DEVICE FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS USING THE SAME

METHODS FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS AND A DEVICE FOR DETECTING NUCLEIC ACID SEQUENCE VARIATIONS USING THE SAME

机译:检测核酸序列变异的方法和使用相同方法检测核酸序列变异的装置

摘要

The present invention relates to a next-generation sequencing method, comprising the steps of: subjecting a target sample to a plurality of times of base sequencing; collecting a plurality of base sequences including the same base sequence or a non-identical base sequence for one target sample; Comparing the base sequence of the reference sample with a plurality of base sequences, selecting a locus of the base sequence of the plurality of base sequences that is inconsistent with the base sequence of the reference sample for each of the plurality of base sequences, Determining an unmatched locus in a plurality of nucleotide sequences as candidates for nucleotide sequence variation of a target sample based on a mutation probability value for an inconsistent locus calculated by a calibrated calculation method according to an analysis, A method for detecting a mutation of a nucleotide sequence is provided.
机译:本发明涉及下一代测序方法,其包括以下步骤:对靶标样品进行多次碱基测序;为一个目标样品收集包括相同碱基序列或不同碱基序列的多个碱基序列;将参考样品的碱基序列与多个碱基序列进行比较,针对多个碱基序列中的每一个,选择与参考样品的碱基序列不一致的多个碱基序列的碱基序列的基因座,基于通过分析的校准计算方法计算出的不一致基因座的突变概率值,作为目标样品的核苷酸序列变异的候选者的多个核苷酸序列中的不匹配基因座,检测核苷酸序列突变的方法是提供。

著录项

  • 公开/公告号KR101936933B1

    专利类型

  • 公开/公告日2019-01-09

    原文格式PDF

  • 申请/专利权人 연세대학교 산학협력단;

    申请/专利号KR20160160630

  • 发明设计人 김상우;김준호;

    申请日2016-11-29

  • 分类号G06F19/18;G06F19/24;

  • 国家 KR

  • 入库时间 2022-08-21 11:49:21

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