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Methods and systems for modeling phasing effects in sequencing using termination chemistry

机译:使用终止化学法对测序中的定相效应建模的方法和系统

摘要

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.
机译:用于核酸测序的方法包括从测序仪器接收观察到的或测量的核酸测序数据,该测序仪器在通过合成终止测序的过程中接收并处理样品核酸。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,为观察或测量的核酸测序数据生成一组碱基的候选序列。该模拟框架包括估计的结转率(CFR),估计的不完全延伸率(IER),估计的下垂率(DR),估计的重新活化分子率(RMR)和估计的终止失败率(TFR), RMR大于或等于零,而TFR小于一。该方法还包括从一组候选碱基序列中识别出一个候选序列,该候选序列导致求解器功能的优化,这与样品核酸的序列相对应。

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