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    METHODS AND SYSTEMS FOR COPY NUMBER VARIANT DETECTION
    1.
    发明公开
    METHODS AND SYSTEMS FOR COPY NUMBER VARIANT DETECTION 审中-公开
    用于拷贝数变异检测的方法和系统

    公开(公告)号：EP3298523A1

    公开(公告)日：2018-03-28

    申请号：EP16725331.9

    申请日：2016-05-13

    申请人： Regeneron Pharmaceuticals, Inc.

    发明人： REID, Jeffrey ,  HABEGGER, Lukas ,  PACKER, Jonathan ,  MAXWELL, Evan

    IPC分类号： G06F19/22 ,  G06F19/24

    摘要： Methods and systems for determining copy number variants are disclosed. An example method can comprise applying a sample grouping technique to select reference coverage data, normalizing sample coverage data comprising a plurality of genomic regions, and fitting a mixture model to the normalized sample coverage data based on the selected reference coverage data. An example method can comprise identifying one or more copy number variants (CNVs) according to a Hidden Markov Model (HMM) based on the normalized sample coverage data and the fitted mixture model. An example method can comprise outputting the one or more copy number variants.