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    VARIETAL COUNTING OF NUCLEIC ACIDS FOR OBTAINING GENOMIC COPY NUMBER INFORMATION
    5.
    发明公开
    VARIETAL COUNTING OF NUCLEIC ACIDS FOR OBTAINING GENOMIC COPY NUMBER INFORMATION 审中-公开

    公开(公告)号：EP3702475A1

    公开(公告)日：2020-09-02

    申请号：EP19201353.0

    申请日：2011-10-21

    申请人： Cold Spring Harbor Laboratory

    发明人： HICKS, James ,  NAVIN, Nicholas ,  TROGE, Jennifer ,  WANG, Zihua ,  WIGLER, Michael

    IPC分类号： C12Q1/6869 ,  C12Q1/683 ,  C12N15/11 ,  C12Q1/48

    摘要： A method for obtaining from genomic material genomic copy number information unaffected by amplification distortion, comprising obtaining segments of the genomic material, tagging the segments with substantially unique tags to generate tagged nucleic acid molecules, such that each tagged nucleic acid molecule comprises one segment of the genomic material and a tag, subjecting the tagged nucleic acid molecules to amplification by polymerase chain reaction (PCR), generating tag associated sequence reads by sequencing the product of the PCR reaction, assigning each tagged nucleic acid molecule to a location on a genome associated with the genomic material by mapping the subsequence of each tag associated sequence read corresponding to a segment of the genomic material to a location on the genome, and counting the number of tagged nucleic acid molecules having a different tag that have been assigned to the same location on the genome, thereby obtaining genomic copy number information unaffected by amplification distortion.