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    Analyzing copy number variation in the detection of cancer
    5.
    发明授权
    Analyzing copy number variation in the detection of cancer 有权

    公开(公告)号：US10388403B2

    公开(公告)日：2019-08-20

    申请号：US13555010

    申请日：2012-07-20

    申请人： Richard P. Rava ,  Brian K. Rhees

    发明人： Richard P. Rava ,  Brian K. Rhees

    IPC分类号： G06F19/22 ,  C12Q1/68 ,  G11C17/00 ,  G16B30/00 ,  C12Q1/6806 ,  C12Q1/6869 ,  C12Q1/6809 ,  G16H50/30 ,  G16H50/20 ,  C12Q1/6883 ,  C12Q1/6886

    摘要： The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.

    Detecting and classifying copy number variation
    7.
    发明授权
    Detecting and classifying copy number variation 有权

    公开(公告)号：US09411937B2

    公开(公告)日：2016-08-09

    申请号：US13843258

    申请日：2013-03-15

    申请人： Anupama Srinivasan ,  Richard P. Rava

    发明人： Anupama Srinivasan ,  Richard P. Rava

    IPC分类号： G06F19/22 ,  G11C17/00 ,  G06F15/00 ,  G06F19/00 ,  C12Q1/68 ,  G06F19/24

    CPC分类号： G06F19/3431 ,  C12Q1/6883 ,  G06F19/00 ,  G06F19/22 ,  G06F19/24 ,  G16H50/30

    摘要： The invention provides a method for determining copy number variations (CNV) of a sequence of interest in a test sample that comprises a mixture of nucleic acids that are known or are suspected to differ in the amount of one or more sequence of interest. The method comprises a statistical approach that accounts for accrued variability stemming from process-related, interchromosomal and inter-sequencing variability. The method is applicable to determining CNV of any fetal aneuploidy, and CNVs known or suspected to be associated with a variety of medical conditions. CNV that can be determined according to the method include trisomies and monosomies of any one or more of chromosomes 1-22, X and Y, other chromosomal polysomies, and deletions and/or duplications of segments of any one or more of the chromosomes, which can be detected by sequencing only once the nucleic acids of a test sample.