首页> 外国专利> QUANTITATIVE AMPLICON SEQUENCING FOR MULTIPLEXED COPY NUMBER VARIATION DETECTION AND ALLELE RATIO QUANTITATION

QUANTITATIVE AMPLICON SEQUENCING FOR MULTIPLEXED COPY NUMBER VARIATION DETECTION AND ALLELE RATIO QUANTITATION

机译:多路复用拷贝数变型检测和等位基因比定量定量扩增子测序

摘要

Provided herein are methods of quantitative amplicon sequencing, for labeling each strand of targeted genomic loci in a DNA sample with an oligonucleotide barcode sequence by polymerase chain reaction, and amplifying the genomic region(s) for high-throughput sequencing. The methods can be used for the simultaneous detection of copy number variation (CNV) in a set of genes of interest, by quantifying the frequency of extra copies of each gene. In addition, these methods provide for the quantitation of the allele ratio of different genetic identities for targeted genomic loci using multiplexed PCR. In addition, these methods provide for the detection of mutations and quantitation of the variant allele frequency.
机译:本文提供了定量扩增子测序的方法,用于通过聚合酶链反应将DNA样品中的靶基因组基因座的每条靶基因​​组基因酮标记,并通过聚合酶链反应扩增用于高通量测序的基因组区域。通过量化每个基因的额外拷贝的频率,该方法可用于同时检测在感兴趣的一组基因中的拷贝数变异(CNV)。此外,这些方法提供了使用多路复用PCR的靶向基因组基因座的不同遗传标识的等位基因比的定量。此外,这些方法提供了检测变异等位基因频率的突变和定量。

著录项

  • 公开/公告号WO2020142631A3

    专利类型

  • 公开/公告日2021-05-27

    原文格式PDF

  • 申请/专利权人 WILLIAM MARSH RICE UNIVERSITY;

    申请/专利号WO2020US12089

  • 发明设计人 ZHANG DAVID;DAI PENG;WU RUOJIA;

    申请日2020-01-02

  • 分类号C12Q1/6806;C12Q1/686;

  • 国家 US

  • 入库时间 2022-08-24 19:02:21

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