Strategies for high throughput identification and detection of polymorphisms

    公开(公告)号:US10978175B2

    公开(公告)日:2021-04-13

    申请号:US16517411

    申请日:2019-07-19

    Applicant: KEYGENE N.V.

    Abstract: The invention relates to a method for identifying one or more polymorphisms in nucleic acid samples, comprising: (a) performing a reproducible complexity reduction on a plurality of nucleic acid samples to provide a plurality of libraries of the nucleic acid samples comprising amplified fragments, wherein the reproducible complexity reduction comprises amplifying fragments of the nucleic acid samples using one or more primers to obtain the amplified fragments, and wherein the amplified fragments in each library comprise a unique identifier sequence to indicate origin of each library obtained by the reproducible complexity reduction; (b) combining the plurality of libraries to obtain a combined library and sequencing at least a portion of the combined library to obtain sequences; (c) aligning the sequences to obtain an alignment; and (d) identifying one or more polymorphisms in the plurality of nucleic acid samples.

    STRATEGIES FOR HIGH THROUGHPUT IDENTIFICATION AND DETECTION OF POLYMORPHISMS

    公开(公告)号:US20190147977A1

    公开(公告)日:2019-05-16

    申请号:US16178344

    申请日:2018-11-01

    Applicant: Keygene N.V.

    Abstract: The invention relates to a method for identifying one or more polymorphisms in nucleic acid samples, comprising: (a) performing a reproducible complexity reduction on a plurality of nucleic acid samples to provide a plurality of libraries of the nucleic acid samples comprising amplified fragments, wherein the reproducible complexity reduction comprises amplifying fragments of the nucleic acid samples using one or more primers to obtain the amplified fragments, and wherein the amplified fragments in each library comprise a unique identifier sequence to indicate origin of each library obtained by the reproducible complexity reduction; (b) combining the plurality of libraries to obtain a combined library and sequencing at least a portion of the combined library to obtain sequences; (c) aligning the sequences to obtain an alignment; and (d) identifying one or more polymorphisms in the plurality of nucleic acid samples.

    Strategies for high throughput identification and detection of polymorphisms
    6.
    发明授权
    Strategies for high throughput identification and detection of polymorphisms 有权
    高通量鉴定和多态性检测策略

    公开(公告)号:US09023768B2

    公开(公告)日:2015-05-05

    申请号:US14253806

    申请日:2014-04-15

    Applicant: Keygene N.V.

    Abstract: The invention relates to a method for the high throughput identification of single nucleotide polymorphisms by performing a complexity reduction on two or more samples to yield two or more libraries, sequencing at least part of the libraries, aligning the identified sequences and determining any putative single nucleotide polymorphisms, confirming any putative single nucleotide polymorphism, generating detection probes for the confirmed single nucleotide polymorphisms, subjection a test sample to the same complexity reduction to provide a test library and screen the test library for the presence or absence of the single nucleotide polymorphisms using the detection probe.

    Abstract translation: 本发明涉及通过在两个或多个样品上进行复杂性降低以产生两个或更多个文库,测序至少部分文库,对齐所鉴定的序列并确定任何推定的单核苷酸的方法,用于高通量鉴定单核苷酸多态性的方法 多态性,确认任何推定的单核苷酸多态性,产生用于确认的单核苷酸多态性的检测探针,将测试样品命名为相同的复杂性降低以提供测试文库并筛选测试文库以存在或不存在单核苷酸多态性 检测探头。

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