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    • 3. 发明申请
    • PARALLEL POLYMER SEQUENCING METHODS
    • 并行聚合物测序方法
    • WO2005040425A2
    • 2005-05-06
    • PCT/GB2004/004432
    • 2004-10-20
    • ISIS INNOVATION LTDSHCHEPINOV, Mikhail, S.MIR, Kalim
    • SHCHEPINOV, Mikhail, S.MIR, Kalim
    • C12Q1/68
    • C12Q1/6874C12Q1/6818C12Q1/6869G01N21/6428G01N2021/6432G01N2021/6441C12Q2565/501C12Q2565/101C12Q2563/155C12Q2565/518C12Q2533/107C12Q2535/122C12Q2533/101C12Q2563/173C12Q2565/301C12Q2561/113
    • The present invention relates to a method of sequencing a target polynucleotide by enzymatic and/or chemical means. The sequencing method includes a method for characterizing multiple alleles in a sample, a method of calculating confidence levels in ascertained sequences, a method for comparing polynucleotide sequences and a method of resolving ambiguities in a polynucleotide sequence. It also provides methods for appropriately preparing samples, for immobilising template molecules, for organising the template molecules and to conduct the sequencing of many molecules in parallel. The method involves analysing molecules as members of an array. Many target polynucleotides or many segments of a single target polynucleotide can be sequenced simultaneously. In a preferred embodiment the method involves analysing individual molecules within an array and base calls are based on the signals from two or more molecules. A method to prevent non-specific signal in sequencing is also provided. The invention is readily automated, both for small-scale and large-scale operation and relevant algorithms and the composition of kits and systems are provided.
    • 本发明涉及通过酶和/或化学方法测序靶多核苷酸的方法。 测序方法包括用于表征样品中多个等位基因的方法,计算确定序列中的置信水平的方法,用于比较多核苷酸序列的方法和解决多核苷酸序列中的模糊度的方法。 它还提供了适当制备样品,固定模板分子,组织模板分子和并行进行许多分子测序的方法。 该方法包括分析分子作为阵列的成员。 单个靶多核苷酸的许多靶多核苷酸或许多片段可以同时测序。 在优选实施方案中,该方法包括分析阵列内的各个分子,并且基于来自两个或更多个分子的信号进行碱基呼叫。 还提供了一种在排序中防止非特异性信号的方法。 本发明容易地自动化,用于小规模和大规模操作以及相关算法,并提供了套件和系统的组成。
    • 8. 发明申请
    • THERAPEUTIC SUBSTANCES THAT MODULATE GENOME METHYLATION
    • 调节基因组甲基化的治疗药物
    • WO2009114814A2
    • 2009-09-17
    • PCT/US2009037173
    • 2009-03-13
    • RETROTOPE INCSHCHEPINOV MIKHAIL S
    • SHCHEPINOV MIKHAIL S
    • C07H19/06C07D405/04C07H19/073
    • Compounds containing nucleic acid bases or their precursors modified by enrichment at specific sites with heavy stable isotopes of elements naturally present at those sites in minute amount are useful for the treatment of diseases characterized by altered gene expression and altered pattern of epigenomic control. These compounds, when used as nutrients or in other medicinal application methods, can alter the DNA methylation pattern in a simple way through the well-understood mechanism of kinetic isotope effect (KIE). This effect could also be useful for modifying methylation kinetics in stem cell technology, cloning and as disease therapeutics.
    • 含有核酸碱基或其前体的化合物可用于治疗以基因表达改变和表观遗传调控模式改变为特征的疾病的特异性位点,在特定部位通过富集天然存在于元件天然存在的重要的稳定同位素进行富集而修饰。 这些化合物在用作营养物质或其他药物施用方法时,可以通过了解动力学同位素效应(KIE)的机理,以简单的方式改变DNA甲基化模式。 这种作用还可用于修饰干细胞技术中的甲基化动力学,克隆和疾病治疗。