专利快速检索-快速检索全球专利，免费商用专利数据库-IPRDB

1. 发明公开

EP2395098A1 Base specific cleavage of methylation-specific amplification products in combination with mass analysis 有权转让
标题翻译： Basenspezifische Spaltung methylierungsspezifischer Amplifikationsprodukte in Kombination mit Massenanalyse
公开(公告)号：EP2395098A1
公开(公告)日：2011-12-14
申请号：EP11006184.3
申请日：2005-03-24
申请人： Sequenom, Inc.
发明人： Ehrich, Mathias , Van den Boom, Dirk Johannes
IPC分类号： C12P19/34 , C12Q1/68
CPC分类号： C12Q1/6848 , C12Q1/6858 , C12Q2565/627 , C12Q2523/125 , C12Q2525/143
摘要： The present invention relates to a method of distinguishing between a false positive methylation specific amplification and a true methylation specific amplification, comprising the steps of: (a) treating a target nucleic acid molecule with a reagent that modifies an unmethylated selected nucleotide to produce a different nucleotide; (b) contacting the treated target nucleic acid molecule with a methylation state specific primer complementary to a first target nucleic acid region containing one or more of the selected nucleotides; (c) treating the contacted target nucleic acid molecule under nucleic acid synthesis conditions; (d) treating the synthesized products under base specific cleavage conditions; and (e) detecting the mass of the cleaved products, wherein: a change in mass of one or more cleaved products compared to a reference mass indicates that a nucleotide locus in a second region in a target is methylated, wherein the second region does not overlap with the first region, whereby presence of one or more methylated loci in the second region confirms true methylation specific amplification.
摘要翻译：本发明涉及区分假阳性甲基化特异性扩增和真正甲基化特异性扩增的方法，其包括以下步骤：（a）用修饰未甲基化的选择核苷酸的试剂处理靶核酸分子以产生不同的核苷酸; （b）使经处理的靶核酸分子与含有一个或多个所选核苷酸的第一靶核酸区域互补的甲基化状态特异性引物接触; （c）在核酸合成条件下处理接触的靶核酸分子; （d）在碱性特异性裂解条件下处理合成的产物; 和（e）检测切割产物的质量，其中：与参考质量相比，一种或多种切割产物的质量变化表明靶标中第二区域中的核苷酸位点是甲基化的，其中第二区域不与第一区域重叠，由此第二区域中一个或多个甲基化位点的存在证实了真正的甲基化特异性扩增。

2. 发明授权

EP3495496B1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF CHROMOSOME ALTERATIONS 有权
公开(公告)号：EP3495496B1
公开(公告)日：2020-11-25
申请号：EP18193672.5
申请日：2014-10-03
申请人： Sequenom, Inc.
发明人： Kim, Sung , Jensen, Taylor Jacob , Ehrich, Mathias
IPC分类号： C12Q1/68 , G16B20/00 , G16B30/00

3. 发明公开

EP3736344A1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS 审中-公开
公开(公告)号：EP3736344A1
公开(公告)日：2020-11-11
申请号：EP20172959.7
申请日：2015-03-12
申请人： Sequenom, Inc.
发明人： Jensen, Taylor , Geis, Jennifer , Kim, Sung , Deciu, Cosmin , Ehrich, Mathias
IPC分类号： C12Q1/6883
摘要： Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

4. 发明公开

EP3495496A1 METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF CHROMOSOME ALTERATIONS 有权
公开(公告)号：EP3495496A1
公开(公告)日：2019-06-12
申请号：EP18193672.5
申请日：2014-10-03
申请人： Sequenom, Inc.
发明人： Kim, Sung , Jensen, Taylor Jacob , Ehrich, Mathias
IPC分类号： C12Q1/68 , G16B20/00 , G16B30/00
摘要： Provided herein are methods, processes, systems, machines and apparatuses for non-invasive assessment of chromosome alterations.

5. 发明授权

EP3330382B1 PROCESSES FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES 有权转让
公开(公告)号：EP3330382B1
公开(公告)日：2020-03-11
申请号：EP17182863.5
申请日：2010-03-18
申请人： Sequenom, Inc.
发明人： Ehrich, Mathias , Nygren, Anders Olof Herman , Jensen, Taylor Jacob
IPC分类号： C12Q1/6804 , C12Q1/6809 , C12Q1/6806 , C12Q1/6888

6. 发明公开

EP3088532A1 PROCESSES AND KITS FOR IDENTIFYING ANEUPLOIDY 有权
标题翻译： VERFAHREN UND KITS ZUR IDENTIFIZIERUNG VON ANEUPLOIDIE
公开(公告)号：EP3088532A1
公开(公告)日：2016-11-02
申请号：EP16156605.4
申请日：2010-12-20
申请人： Sequenom, Inc.
发明人： Ehrich, Mathias , Mistro, Guy Del , Deciu, Cosmin , Chen, Yong Qing , McCullough, Ron Michael , Tim, Roger Chan
IPC分类号： C12Q1/68 , C12N15/11 , G06F17/00 , G06F19/00
CPC分类号： C12Q1/686 , C12Q1/6883 , C12Q1/6886 , C12Q2600/156 , C12Q2600/16 , G06F19/20
摘要： Provided are methods for identifying the presence or absence of a chromosome abnormality by which a cell-free sample nucleic acid from a subject is analyzed. In certain embodiments, provided are methods for identifying the presence or absence of a fetal chromosome abnormality in a nucleic acid from cell-free maternal blood.
摘要翻译：提供了用于鉴定来自受试者的无细胞样本核酸分析染色体异常的存在或不存在的方法。在某些实施方案中，提供了鉴定来自无细胞母体血液的核酸中胎儿染色体异常的存在或不存在的方法。

7. 发明公开

EP3330382A1 PROCESSES AND COMPOSITIONS FOR METHYLATION-BASED ENRICHMENT OF FETAL NUCLEIC ACID FROM A MATERNAL SAMPLE USEFUL FOR NON-INVASIVE PRENATAL DIAGNOSES 有权转让
公开(公告)号：EP3330382A1
公开(公告)日：2018-06-06
申请号：EP17182863.5
申请日：2010-03-18
申请人： Sequenom, Inc. , Sequenom Center For Molecular Medicine
发明人： Ehrich, Mathias , Nygren, Anders Olof Herman , Jensen, Taylor Jacob
IPC分类号： C12Q1/68 , C12N15/117 , C12N15/10
摘要： Provided are compositions and processes that utilize genomic regions that are differentially methylated between a mother and her fetus to separate, isolate or enrich fetal nucleic acid from a maternal sample. The compositions and processes described herein are particularly useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuplodies.

你已经成功收藏专利！

检索式保存成功!

IPRDB

热门服务

关于我们

友情链接

联系方式