METHODS AND SYSTEMS FOR INSTRUMENT VALIDATION
    1.
    发明申请
    METHODS AND SYSTEMS FOR INSTRUMENT VALIDATION 审中-公开
    仪器验证的方法和系统

    公开(公告)号:WO2016127032A1

    公开(公告)日:2016-08-11

    申请号:PCT/US2016/016730

    申请日:2016-02-05

    Abstract: A method for validating an instrument is provided. The method includes receiving amplification data from a validation plate to generate a plurality of amplification curves (102, 202). The validation plate includes a sample of a first quantity and a second quantity, and each amplification curve includes an exponential region. The method further includes determining a set of fluorescence thresholds based on the exponential regions of the plurality of amplification curves (104, 204) and determining, for each fluorescence threshold of the set, a first set of cycle threshold (C t ) values of amplification curves generated from the samples of the first quantity and a second set of C t values of amplification curves generated from the samples of the second quantity (106, 206). The method includes calculating if the first and second quantities are sufficiently distinguishable based on C t values at each of the plurality of fluorescence thresholds (108, 208-218).

    Abstract translation: 提供了一种验证仪器的方法。 该方法包括从验证板接收放大数据以产生多个放大曲线(102,202)。 验证板包括第一数量和第二数量的样本,并且每个扩增曲线包括指数区域。 该方法还包括基于多个扩增曲线(104,204)的指数区域来确定一组荧光阈值,并且针对该组的每个荧光阈值确定放大曲线的第一组周期阈值(Ct)值 从第一数量的样本和从第二数量(106,206)的样本生成的第二组扩增曲线的Ctval值产生。 该方法包括基于多个荧光阈值(108,208-218)中的每一个的Ct值来计算第一和第二量是否足够可区分。

    METHODS AND SYSTEMS FOR DETECTING VARIATIONS IN NUCLEIC ACID SEQUENCES
    3.
    发明申请
    METHODS AND SYSTEMS FOR DETECTING VARIATIONS IN NUCLEIC ACID SEQUENCES 审中-公开
    用于检测核酸序列变异的方法和系统

    公开(公告)号:WO2016168713A1

    公开(公告)日:2016-10-20

    申请号:PCT/US2016/027908

    申请日:2016-04-15

    CPC classification number: G01N27/44717 G06F19/22

    Abstract: In one exemplary embodiment, a method for detecting variants in electropherogram data is provided. The method includes receiving electropherogram data from an instrument and analyzing the electropherogram data to identify mixed bases in the electropherogram data. The method further includes identifying features within the electropherogram data indicative of errors and validating the identified mixed bases. Then the method includes determining variants in the electropherogram data based on the validated mixed bases.

    Abstract translation: 在一个示例性实施例中,提供了一种用于检测电泳图数据中的变体的方法。 该方法包括从仪器接收电泳图数据,并分析电泳图数据以识别电泳图数据中的混合碱基。 该方法还包括识别电泳图中指示错误并验证所识别的混合碱基的特征。 然后该方法包括基于经验证的混合碱基来确定电泳图数据中的变体。

    DEEP BASECALLER FOR SANGER SEQUENCING
    5.
    发明申请

    公开(公告)号:WO2020123552A1

    公开(公告)日:2020-06-18

    申请号:PCT/US2019/065540

    申请日:2019-12-10

    Abstract: A deep basecaller system for Sanger sequencing and associated methods are provided. The methods use deep machine learning. A Deep Learning Model is used to determine scan labelling probabilities based on an analyzed trace. A Neural Network is trained to learn the optimal mapping function to minimize a Connectionist Temporal Classification (CTC) Loss function. The CTC function is used to calculate loss by matching a target sequence and predicted scan labelling probabilities. A Decoder generates a sequence with the maximum probability. A Basecall position finder using prefix beam search is used to walk through CTC labelling probabilities to find a scan range and then the scan a position of peak labelling probability within the scan range for each called base. A Quality Value (QV) is determined using a feature vector calculated from CTC labelling probabilities as an index into a QV look-up table to find a quality score.

    METHODS AND SYSTEMS FOR BIOLOGICAL INSTRUMENT CALIBRATION
    8.
    发明申请
    METHODS AND SYSTEMS FOR BIOLOGICAL INSTRUMENT CALIBRATION 审中-公开
    生物仪器校准的方法和系统

    公开(公告)号:WO2016127124A2

    公开(公告)日:2016-08-11

    申请号:PCT/US2016/016882

    申请日:2016-02-05

    Abstract: In one exemplary embodiment, a method for calibrating an instrument is provided. The instrument includes an optical system capable of imaging florescence emission from a plurality of reaction sites. The method includes performing a region-of-interest (ROI) calibration to determine reaction site positions in an image. The method further includes performing a pure dye calibration to determine the contribution of a fluorescent dye used in each reaction site by comparing a raw spectrum of the fluorescent dye to a pure spectrum calibration data of the fluorescent dye. The method further includes performing an instrument normalization calibration to determine a filter normalization factor. The method includes performing an RNase P validation to validate the instrument is capable of distinguishing between two different quantities of sample.

    Abstract translation: 在一个示例性实施例中,提供了一种用于校准仪器的方法。 该仪器包括能够成像来自多个反应位点的荧光发射的光学系统。 该方法包括执行感兴趣区域(ROI)校准以确定图像中的反应位置位置。 该方法还包括进行纯染料校准,以通过将荧光染料的原始光谱与荧光染料的纯光谱校准数据进行比较来确定每个反应位点中使用的荧光染料的贡献。 该方法还包括执行仪器归一化校准以确定滤波器归一化因子。 该方法包括执行RNase P验证以验证仪器能够区分两种不同数量的样品。

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