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METHOD AND SYSTEM FOR MULTIPLE DOT PLOT ANALYSIS

机译:多点图分析的方法和系统

摘要

The present invention relates to a method for analyzing a genome sequence, and particularly relates to a genome analysis method for modifying existing reference genome sequence information. More particularly, the present invention relates to a method for quickly and efficiently implementing gap closing of an existing reference genome by comparing and analyzing an assembled sequence of a genome of a test sequence with the existing reference genome sequence via a multiple dot plot analysis method using a de novo assembly, and accordingly enhancing completeness of the reference genome through modification of sequence information of the existing reference genome. In addition, the present invention relates to a method for identifying mutation of the genome sequence of a test object by comparing the reference sequence modified according to the genome analysis method and the de novo assembled test sequence. In particular, the present invention relates to a method for identifying haplotype-specific gene mutations.
机译:本发明涉及一种分析基因组序列的方法,尤其涉及一种用于修改现有参考基因组序列信息的基因组分析方法。更具体地,本发明涉及一种通过使用以下方法通过多点图分析方法对测试序列的基因组的组装序列与现有参考基因组序列进行比较和分析,从而快速有效地实现现有参考基因组的缺口闭合的方法。从头组装,并因此通过修改现有参考基因组的序列信息来增强参考基因组的完整性。另外,本发明涉及一种通过比较根据基因组分析方法修饰的参考序列和从头组装的测试序列来鉴定测试对象的基因组序列的突变的方法。特别地,本发明涉及用于鉴定单倍型特异性基因突变的方法。

著录项

  • 公开/公告号KR101832834B1

    专利类型

  • 公开/公告日2018-04-13

    原文格式PDF

  • 申请/专利权人 SHINE BIOPHARMA INC.;

    申请/专利号KR20170128472

  • 发明设计人 KIM CHANGHOON;

    申请日2017-10-01

  • 分类号G06F19/24;G06F19/20;G06F19/26;

  • 国家 KR

  • 入库时间 2022-08-21 12:38:22

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