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    Systems and Methods for Detecting Structural Variants
    1.
    发明申请
    Systems and Methods for Detecting Structural Variants 有权
    检测结构变体的系统和方法

    公开(公告)号：US20150094212A1

    公开(公告)日：2015-04-02

    申请号：US14503461

    申请日：2014-10-01

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Rajesh Gottimukkala ,  Fiona Hyland ,  Sowmi Utiramerur ,  Jeoffrey Schageman ,  Susan Magdaleno

    IPC: C12Q1/68 ,  G06F19/18

    CPC classification number: G06F19/18 ,  C12Q1/6858 ,  C12Q1/6869 ,  C12Q2535/101 ,  C12Q2537/143 ,  C12Q2539/105

    Abstract: Systems and method for identifying long deletions can obtain sequencing information for a plurality of amplicons in and around a potential region from a nucleic acid sample. The sequencing information can include a plurality of reads that can be mapped to a reference sequence. Using information, such as where reads map to a reference sequence and relative abundance of reads for the amplicons, structural variants can be identified and a determination can be made if the nucleic acid sample is homozygous or heterozygous for the structural variant.

    Abstract translation: 用于识别长缺失的系统和方法可以获得核酸样品的潜在区域内和周围的多个扩增子的测序信息。 排序信息可以包括可以映射到参考序列的多个读取。 使用诸如读数映射到扩增子的参考序列和相对丰度的信息的信息，可以鉴定结构变体，并且如果核酸样品对于结构变体是纯合的或杂合的，则可以进行确定。

    Methods, systems, and computer readable media for evaluating variant likelihood
    2.
    发明授权
    Methods, systems, and computer readable media for evaluating variant likelihood 有权

    公开(公告)号：US11636919B2

    公开(公告)日：2023-04-25

    申请号：US15974976

    申请日：2018-05-09

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Earl Hubbell ,  Sowmi Utiramerur

    IPC: G16B20/20 ,  G16B30/00 ,  G16B40/00 ,  C12Q1/6874 ,  C12Q1/6869

    Abstract: A method for evaluating variant likelihood includes: providing a plurality of template polynucleotide strands, sequencing primers, and polymerase in a plurality of defined spaces disposed on a sensor array; exposing the plurality of template polynucleotide strands, sequencing primers, and polymerase to a series of flows of nucleotide species according to a predetermined order; obtaining measured values corresponding to an ensemble of sequencing reads for at least some of the template polynucleotide strands in at least one of the defined spaces; and evaluating a likelihood that a variant sequence is present given the measured values corresponding to the ensemble of sequencing reads, the evaluating comprising: determining a measurement confidence value for each read in the ensemble of sequencing reads and modifying at least some model-predicted values using a first bias for forward strands and a second bias for reverse strands.

    Methods, Systems, and Computer Readable Media for Evaluating Variant Likelihood
    3.
    发明申请
    Methods, Systems, and Computer Readable Media for Evaluating Variant Likelihood 审中-公开
    用于评估变异似然的方法，系统和计算机可读介质

    公开(公告)号：US20140296080A1

    公开(公告)日：2014-10-02

    申请号：US14200942

    申请日：2014-03-07

    Applicant: LIFE TECHNOLOGIES CORPORATION

    Inventor： Earl Hubbell ,  Sowmi Utiramerur

    IPC: G06F19/22 ,  C12Q1/68

    CPC classification number: G16B30/00 ,  C12Q1/6874 ,  G16B40/00

    Abstract: A method for evaluating variant likelihood includes: providing a plurality of template polynucleotide strands, sequencing primers, and polymerase in a plurality of defined spaces disposed on a sensor array; exposing the plurality of template polynucleotide strands, sequencing primers, and polymerase to a series of flows of nucleotide species according to a predetermined order; obtaining measured values corresponding to an ensemble of sequencing reads for at least some of the template polynucleotide strands in at least one of the defined spaces; and evaluating a likelihood that a variant sequence is present given the measured values corresponding to the ensemble of sequencing reads, the evaluating comprising: determining a measurement confidence value for each read in the ensemble of sequencing reads and modifying at least some model-predicted values using a first bias for forward strands and a second bias for reverse strands.

    Abstract translation: 用于评估变异可能性的方法包括：在设置在传感器阵列上的多个限定空间中提供多个模板多核苷酸链，测序引物和聚合酶; 根据预定顺序将多个模板多核苷酸链，测序引物和聚合酶暴露于一系列核苷酸种类的流中; 获得对应于至少一个所述定义的空间中的至少一些模板多核苷酸链的测序读集合的测量值; 并且评估变量序列存在的可能性，给定对应于测序集合的测量值，所述评估包括：确定测序集合中每次读取的测量置信度值，并且使用以下步骤修改至少一些模型预测值 正向链的第一偏倚和反向链的第二偏倚。

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