METHODS AND SYSTEMS FOR MODELING PHASING EFFECTS IN SEQUENCING USING TERMINATION CHEMISTRY
    1.
    发明申请
    METHODS AND SYSTEMS FOR MODELING PHASING EFFECTS IN SEQUENCING USING TERMINATION CHEMISTRY 审中-公开
    使用终止化学序列建模相关效应的方法和系统

    公开(公告)号:WO2015051338A1

    公开(公告)日:2015-04-09

    申请号:PCT/US2014/059191

    申请日:2014-10-03

    CPC classification number: G06F19/22 G06F19/12 G06F19/18 G06F19/20

    Abstract: A method for nucleic acid sequencing includes receiving observed or measured nucleic acid sequencing data from a sequencing instrument that receives and processes a sample nucleic acid in a termination sequencing-by-synthesis process. The method also includes generating a set of candidate sequences of bases for the observed or measured nucleic acid sequencing data by determining a predicted signal for candidate sequences using a simulation framework. The simulation framework incorporates an estimated carry forward rate (CFR), an estimated incomplete extension rate (IER), an estimated droop rate (DR), an estimated reactivated molecules rate (RMR), and an estimated termination failure rate (TFR), the RMR being greater than or equal to zero and the TFR being lesser than one. The method also includes identifying, from the set of candidate sequences of bases, one candidate sequence leading to optimization of a solver function as corresponding to the sequence for the sample nucleic acid.

    Abstract translation: 用于核酸测序的方法包括接收来自测序仪器的观测或测量的核酸测序数据,所述测序仪器在终止测序合成过程中接收和处理样品核酸。 该方法还包括通过使用模拟框架确定候选序列的预测信号来产生用于观察或测量的核酸测序数据的一组候选碱基序列。 模拟框架包含估计结转率(CFR),估计不完全扩展率(IER),估计下降率(DR),估计的再活化分子率(RMR)和估计的终止失败率(TFR), RMR大于或等于零,TFR小于1。 该方法还包括从候选碱基序列的集合中鉴定出一个候选序列,导致解析函数的优化对应于样品核酸的序列。

    METHODS AND SYSTEMS FOR A DIGITAL PCR EXPERIMENT DESIGNER
    2.
    发明申请
    METHODS AND SYSTEMS FOR A DIGITAL PCR EXPERIMENT DESIGNER 审中-公开
    数字PCR实验设计者的方法和系统

    公开(公告)号:WO2014043581A1

    公开(公告)日:2014-03-20

    申请号:PCT/US2013/059815

    申请日:2013-09-13

    CPC classification number: G06F19/20 C12Q1/686 G06F19/24

    Abstract: A computer-implemented method for designing a digital PCR (dPCR) experiment is provided. The method includes receiving, from a user, a selection of optimization type. The optimization type may be maximizing the dynamic range, minimizing the number of substrates including reaction sites needed for the experiment, determining a dilution factor, or determining the lower limit of detection, for example. The method further includes receiving, from the user, a precision measure for an experiment, and a minimum concentration of a target in a reaction site for the experiment. The method also includes determining a set of dPCR experiment design factors for the experiment based on the optimization type. The set of dPCR experiment design factors is then displayed to the user.

    Abstract translation: 提供了一种用于设计数字PCR(dPCR)实验的计算机实现方法。 该方法包括从用户接收优化类型的选择。 优化类型可以使动态范围最大化,例如最小化包括实验所需的反应位点,确定稀释因子或确定检测下限的底物数量。 该方法还包括从用户接收实验的精确度量,以及用于实验的反应部位中靶的最小浓度。 该方法还包括基于优化类型确定实验的一组dPCR实验设计因子。 然后将该组dPCR实验设计因子显示给用户。

    SYSTEMS AND METHODS FOR ERROR CORRECTION IN DNA SEQUENCING
    3.
    发明申请
    SYSTEMS AND METHODS FOR ERROR CORRECTION IN DNA SEQUENCING 审中-公开
    DNA序列中错误校正的系统和方法

    公开(公告)号:WO2011050340A1

    公开(公告)日:2011-04-28

    申请号:PCT/US2010/053873

    申请日:2010-10-22

    Abstract: Disclosed are systems and methods for polynucleotide sequencing where detection and correction of base calling errors can be achieved without reliance on a reference sequence. In certain embodiments, redundant information, which may be provided by additional labels, can be introduced during measurement so as to allow such detection of errors. Such redundant information and measurements can be facilitated by encoding of nucleotide sequence being measured. Various examples of such encoding, redundancy introduction, and decoding are provided.

    Abstract translation: 公开了用于多核苷酸测序的系统和方法,其中可以在不依赖参考序列的情况下实现基本呼叫错误的检测和校正。 在某些实施例中,可以在测量期间引入可由附加标签提供的冗余信息,以允许这种错误的检测。 可以通过编码被测量的核苷酸序列来促进这种冗余信息和测量。 提供了这种编码,冗余引入和解码的各种示例。

    SYSTEMS AND METHODS FOR GENOTYPING BY ANGLE CONFIGURATION SEARCH
    4.
    发明申请
    SYSTEMS AND METHODS FOR GENOTYPING BY ANGLE CONFIGURATION SEARCH 审中-公开
    通过角配置搜索进行基因组的系统和方法

    公开(公告)号:WO2011127429A2

    公开(公告)日:2011-10-13

    申请号:PCT/US2011/031824

    申请日:2011-04-08

    Inventor: SIKORA, Marcin

    CPC classification number: G06F19/18 G06F17/30386 G06F19/24

    Abstract: Methods and systems for the analysis of genotyping data are presented. According to various embodiments of methods and systems, an angle configuration search may be performed. In various embodiments, an exhaustive search over the entirety of an angle configuration space may be performed to provide a fit to a plurality of angles determined for a plurality of points in a data set generated from a plurality of biological samples. For various embodiments, the angle configuration space may be defined to ensure that a global fit may be determined. According to various methods and systems, a data base of possible angle configurations may be searched, in which each angle configuration may include three angles. According to various methods and systems, a data base of possible angle configurations may include for each angle configuration a probability that the angle configuration may occur.

    Abstract translation: 提出了分析基因分型数据的方法和系统。 根据方法和系统的各种实施例,可以执行角度配置搜索。 在各种实施例中,可以执行整个角度配置空间的详尽搜索,以提供对从多个生物样本产生的数据集中的多个点确定的多个角度的拟合。 对于各种实施例,可以定义角度配置空间以确保可以确定全局拟合。 根据各种方法和系统,可以搜索可能的角度配置的数据库,其中每个角度配置可以包括三个角度。 根据各种方法和系统,可能的角度配置的数据库可以包括对于每个角度配置可能发生角度配置的概率。

    METHODS, SYSTEMS, AND COMPUTER READABLE MEDIA FOR MAKING BASE CALLS IN NUCLEIC ACID SEQUENCING
    6.
    发明申请
    METHODS, SYSTEMS, AND COMPUTER READABLE MEDIA FOR MAKING BASE CALLS IN NUCLEIC ACID SEQUENCING 审中-公开
    方法,系统和计算机可读介质,用于在核酸序列中进行基准测量

    公开(公告)号:WO2013025998A1

    公开(公告)日:2013-02-21

    申请号:PCT/US2012/051361

    申请日:2012-08-17

    CPC classification number: G06F19/22 C12Q1/6869 C12Q2535/122 C12Q2565/607

    Abstract: A method for nucleic acid sequencing includes receiving a plurality of observed or measured signals indicative of a parameter observed or measured for a plurality of defined spaces; determining, for at least some of the defined spaces, whether the defined space comprises one or more sample nucleic acids; processing, for at least some of the defined spaces, the observed or measured signal to improve a quality of the observed or measured signal; generating, for at least some of the defined spaces, a set of candidate sequences of bases for the defined space using one or more metrics adapted to associate a score or penalty to the candidate sequences of bases; and selecting the candidate sequence leading to a highest score or a lowest penalty as corresponding to the correct sequence for the one or more sample nucleic acids in the defined space.

    Abstract translation: 一种用于核酸测序的方法包括:接收多个观察或测量的指示针对多个限定空间观察或测量的参数的信号; 对于至少一些所定义的空间,确定所定义的空间是否包含一个或多个样品核酸; 对于至少一些所定义的空间,处理观察或测量的信号以改善所观察或测量的信号的质量; 为所述定义的空间中的至少一些为所述定义的空间生成一组用于使用一个或多个适于将所述候选序列的分数或惩罚相关联的度量的候选序列的序列集合; 以及选择与所述定义空间中的一个或多个样品核酸的正确序列相对应的最高分数或最低分数的候选序列。

    SYSTEMS AND METHODS FOR GENOTYPING BY ANGLE CONFIGURATION SEARCH
    8.
    发明公开
    SYSTEMS AND METHODS FOR GENOTYPING BY ANGLE CONFIGURATION SEARCH 审中-公开
    系统和方法进行基因分型由尖结构检索

    公开(公告)号:EP2556459A2

    公开(公告)日:2013-02-13

    申请号:EP11766837.6

    申请日:2011-04-08

    Inventor: SIKORA, Marcin

    CPC classification number: G06F19/18 G06F17/30386 G06F19/24

    Abstract: Methods and systems for the analysis of genotyping data are presented. According to various embodiments of methods and systems, an angle configuration search may be performed. In various embodiments, an exhaustive search over the entirety of an angle configuration space may be performed to provide a fit to a plurality of angles determined for a plurality of points in a data set generated from a plurality of biological samples. For various embodiments, the angle configuration space may be defined to ensure that a global fit may be determined. According to various methods and systems, a data base of possible angle configurations may be searched, in which each angle configuration may include three angles. According to various methods and systems, a data base of possible angle configurations may include for each angle configuration a probability that the angle configuration may occur.

    METHODS AND SYSTEMS FOR MODELING PHASING EFFECTS IN SEQUENCING USING TERMINATION CHEMISTRY
    9.
    发明公开
    METHODS AND SYSTEMS FOR MODELING PHASING EFFECTS IN SEQUENCING USING TERMINATION CHEMISTRY 审中-公开
    方法和系统通过终止化学循序相影响的模拟

    公开(公告)号:EP3053072A1

    公开(公告)日:2016-08-10

    申请号:EP14790898.2

    申请日:2014-10-03

    CPC classification number: G06F19/22 G06F19/12 G06F19/18 G06F19/20

    Abstract: A method for nucleic acid sequencing includes receiving observed or measured nucleic acid sequencing data from a sequencing instrument that receives and processes a sample nucleic acid in a termination sequencing-by-synthesis process. The method also includes generating a set of candidate sequences of bases for the observed or measured nucleic acid sequencing data by determining a predicted signal for candidate sequences using a simulation framework. The simulation framework incorporates an estimated carry forward rate (CFR), an estimated incomplete extension rate (IER), an estimated droop rate (DR), an estimated reactivated molecules rate (RMR), and an estimated termination failure rate (TFR), the RMR being greater than or equal to zero and the TFR being lesser than one. The method also includes identifying, from the set of candidate sequences of bases, one candidate sequence leading to optimization of a solver function as corresponding to the sequence for the sample nucleic acid.

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