公开(公告)号：US11783911B2

公开(公告)日：2023-10-10

申请号：US15329016

申请日：2015-07-29

Applicant: SEQUENOM, INC.

Inventor： Chen Zhao ,  Cosmin Deciu ,  Dirk Johannes Van Den Boom

IPC: G16B20/10 ,  G16B40/00 ,  G16B30/00 ,  C12Q1/6883 ,  G16B20/00 ,  G16B20/20 ,  G16B30/10

CPC classification number: G16B20/10 ,  C12Q1/6883 ,  G16B20/00 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  C12Q2600/112 ,  C12Q2600/156

Abstract: Methods for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information, in particular length of fragments in circulating cell-free nucleic acids and compares the number of counts from fragments with different length.

公开(公告)号：US20130237428A1

公开(公告)日：2013-09-12

申请号：US13718758

申请日：2012-12-18

Applicant: SEQUENOM, INC.

Inventor： Martin BEAULIEU ,  Dirk Johannes Van Den Boom

IPC: C12Q1/68

CPC classification number: C12Q1/6858 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/16 ,  C12Q2537/157 ,  C12Q2537/143 ,  C12Q2525/155

Abstract: Provided herein are optimized methods for performing multiplexed detection of a plurality of sequence variations. Also provided are methods for performing multiplexed amplification of target nucleic acid.

Abstract translation: 本文提供了用于执行多个序列变化的多路复用检测的优化方法。 还提供了用于进行靶核酸的多重扩增的方法。

公开(公告)号：US11001884B2

公开(公告)日：2021-05-11

申请号：US15647148

申请日：2017-07-11

Applicant: SEQUENOM, INC.

Inventor： Dirk Johannes Van Den Boom ,  Charles R. Cantor ,  Sung Kyun Kim ,  Zeljko Dzakula ,  Cosmin Deciu

IPC: C12Q1/6869 ,  G16B20/00 ,  C12Q1/6827 ,  G16B30/00 ,  G16B40/00

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

公开(公告)号：US20160034640A1

公开(公告)日：2016-02-04

申请号：US14812432

申请日：2015-07-29

Applicant: Sequenom, Inc.

Inventor： Chen ZHAO ,  Cosmin Deciu ,  Dirk Johannes Van Den Boom

IPC: G06F19/24 ,  G06F19/22

CPC classification number: G16B40/00 ,  C12Q1/6883 ,  C12Q2600/112 ,  C12Q2600/156 ,  G16B20/00 ,  G16B30/00

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of nucleic acid fragment length information.

Abstract translation: 本文提供了利用核酸片段长度信息对遗传变异进行非侵入性评估的方法，过程和装置。

公开(公告)号：US20130337456A1

公开(公告)日：2013-12-19

申请号：US13895676

申请日：2013-05-16

Applicant: Sequenom, Inc.

Inventor： Christiane HONISCH ,  Yong Qing Chen ,  Dirk Johannes Van Den Boom

IPC: C12Q1/68

CPC classification number: C12Q1/6872 ,  C12Q1/6858 ,  C12Q1/686 ,  C12Q1/6865 ,  G16B15/00 ,  C12Q2565/627 ,  C12Q2537/165 ,  C12Q2521/301

Abstract: Provided herein are processes for rapidly identifying or determining sequence information in a sample nucleic acid by comparing sample nucleic acid sequence information to reference nucleic acid sequence information or information obtained from reference samples. Also provided are automated systems for conducting comparative sequence analyses.

公开(公告)号：US20140242588A1

公开(公告)日：2014-08-28

申请号：US14350052

申请日：2012-10-05

Applicant: SEQUENOM, INC.

Inventor： Dirk Johannes Van Den Boom ,  Charles R. Cantor ,  Sung Kyun Kim ,  Zeljko Dzakula ,  Cosmin Deciu

IPC: C12Q1/68

CPC classification number: C12Q1/6869 ,  C12Q1/6827 ,  G16B20/00 ,  G16B30/00 ,  G16B40/00 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations.

Abstract translation: 本文提供的技术部分地涉及遗传变异的非侵入性评估的方法，过程和装置。

公开(公告)号：US09051608B2

公开(公告)日：2015-06-09

申请号：US13766482

申请日：2013-02-13

Applicant: SEQUENOM, INC.

Inventor： Dirk Johannes Van Den Boom ,  Paul Andrew Oeth ,  Payam Mahboubi

IPC: C12Q1/68 ,  C12P19/34 ,  C07H21/04 ,  C07H19/04

CPC classification number: C12Q1/6823 ,  C12Q1/6827 ,  C12Q1/686 ,  C12Q1/6872 ,  C12Q1/6883 ,  C12Q2531/113 ,  C12Q2521/319 ,  C12Q2565/627 ,  C12Q2537/143 ,  C12Q2561/101 ,  C12Q2525/161 ,  C12Q2545/114

Abstract: The present invention is directed in part to a method for detecting a target nucleic acid using detector oligonucleotides detectable by mass spectrometry. This method takes advantage of the 5′ to 3′ nuclease activity of a nucleic acid polymerase to cleave annealed oligonucleotide probes from hybridized duplexes and releases labels for detection by mass spectrometry. This process is easily incorporated into a polymerase chain reaction (PCR) amplification assay. The method also includes embodiments directed to quantitative analysis of target nucleic acids.

Abstract translation: 本发明部分地涉及使用通过质谱法可检测的检测器寡核苷酸检测靶核酸的方法。 该方法利用核酸聚合酶的5'至3'核酸酶活性从杂交双链体切割退火寡核苷酸探针，并通过质谱法释放标记进行检测。 该方法容易地并入聚合酶链反应（PCR）扩增测定中。 该方法还包括针对靶核酸的定量分析的实施方案。