公开(公告)号：US09896721B2

公开(公告)日：2018-02-20

申请号：US15350441

申请日：2016-11-14

Applicant: Keygene N.V.

Inventor： Michael Josephus Theresia Van Eijk ,  Henricus Johannes Adam Van Der Poel

IPC: C40B30/04 ,  C12Q1/68 ,  C12N15/10 ,  G06F19/22 ,  C40B30/10

CPC classification number: G06F19/22 ,  C12N15/1065 ,  C12Q1/6806 ,  C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6858 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  C40B30/04 ,  C40B30/10 ,  C12Q2539/107 ,  C12Q2531/113 ,  C12Q2525/191

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.

公开(公告)号：US20140213462A1

公开(公告)日：2014-07-31

申请号：US14166218

申请日：2014-01-28

Applicant: Keygene N.V.

Inventor： Michael Josephus Theresia VAN EIJK ,  Henricus Johannes Adam Van Der Poel

IPC: C12N15/10

CPC classification number: G06F19/22 ,  C12N15/1065 ,  C12Q1/6806 ,  C12Q1/6809 ,  C12Q1/6827 ,  C12Q1/6858 ,  C12Q1/6874 ,  C12Q1/6883 ,  C12Q2600/156 ,  C40B30/04 ,  C40B30/10 ,  C12Q2539/107 ,  C12Q2531/113 ,  C12Q2525/191

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。