公开(公告)号：US10738359B2

公开(公告)日：2020-08-11

申请号：US15443051

申请日：2017-02-27

Applicant: SEQUENOM, INC.

Inventor： Charles R. Cantor ,  Grace DeSantis ,  Reinhold Mueller ,  Mathias Ehrich

IPC: C12Q1/68 ,  C12Q1/6883 ,  C07K16/18 ,  C12Q1/6804

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

公开(公告)号：US20200208212A1

公开(公告)日：2020-07-02

申请号：US16821863

申请日：2020-03-17

Applicant: Sequenom, Inc.

Inventor： Mathias Ehrich ,  Anders Olof Herman Nygren ,  Taylor Jacob Jensen

IPC: C12Q1/6869 ,  C12Q1/6888 ,  C12Q1/6809 ,  C12Q1/6806 ,  C12Q1/6804

Abstract: 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 aneuploidies.

公开(公告)号：US09984198B2

公开(公告)日：2018-05-29

申请号：US13797930

申请日：2013-03-12

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  Mathias Ehrich ,  Taylor Jacob Jensen

IPC: G06F19/18 ,  C12Q1/68 ,  G06F19/22

CPC classification number: G06F19/18 ,  C12Q1/6883 ,  C12Q2600/156 ,  G06F19/22

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.

公开(公告)号：US20150275304A1

公开(公告)日：2015-10-01

申请号：US14735477

申请日：2015-06-10

Applicant: Sequenom, Inc.

Inventor： Mathias Ehrich ,  Anders Nygren Olof Herman

IPC: C12Q1/68 ,  G01N33/53

Abstract: Provided are compositions and processes that utilize genomic regions 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 useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.

Abstract translation: 提供的是使用在母亲和胎儿之间差异甲基化的基因组区域以从母体样品分离，分离或富集胎儿核酸的组合物和方法。 本文描述的组合物和方法可用于非侵入性产前诊断，包括检测染色体非整倍体。

公开(公告)号：US20220411871A1

公开(公告)日：2022-12-29

申请号：US17751201

申请日：2022-05-23

Applicant: Sequenom, Inc.

Inventor： Taylor Jacob Jensen ,  Jennifer Geis ,  Sung Kyun Kim ,  Cosmin Deciu ,  Mathias Ehrich

IPC: C12Q1/6883 ,  G16B25/00 ,  G16B45/00 ,  G16B25/10 ,  G16B25/20

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

公开(公告)号：US10738358B2

公开(公告)日：2020-08-11

申请号：US14735477

申请日：2015-06-10

Applicant: Sequenom, Inc.

Inventor： Mathias Ehrich ,  Anders Olof Herman Nygren

IPC: C12Q1/68 ,  C12Q1/6883 ,  C12Q1/6804 ,  C12Q1/6809 ,  C12Q1/6888 ,  C12Q1/6806 ,  C12Q1/6879 ,  G01N33/53

Abstract: Provided are compositions and processes that utilize genomic regions 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 useful for non-invasive prenatal diagnostics, including the detection of chromosomal aneuploidies.

公开(公告)号：US09605313B2

公开(公告)日：2017-03-28

申请号：US13782901

申请日：2013-03-01

Applicant: SEQUENOM, INC.

Inventor： Charles R. Cantor ,  Grace DeSantis ,  Reinhold Mueller ,  Mathias Ehrich

IPC: C12P19/34 ,  C12Q1/68 ,  C07K16/18

CPC classification number: C12Q1/6883 ,  C07K16/18 ,  C12Q1/6804 ,  C12Q2522/101

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

公开(公告)号：US20240290423A1

公开(公告)日：2024-08-29

申请号：US18429954

申请日：2024-02-01

Applicant: Sequenom, Inc.

Inventor： Mostafa Azab ,  Michael Sykes ,  Youting Sun ,  Amin Mazloom ,  Taylor Jensen ,  Mathias Ehrich ,  Christopher Ellison

IPC: G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B20/40 ,  G16B25/00 ,  G16B30/10

CPC classification number: G16B20/20 ,  C12Q1/6816 ,  G16B20/10 ,  G16B25/00 ,  G16B30/10 ,  G16B20/40

Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genetic alterations. In particular, a method is provided for that includes obtaining nucleic acid fragments from a sample from a test subject; sequencing the sequence constructs to obtain sequence reads; demultiplexing the sequence reads to a first and a second subset of sequences reads; generating a first set of consensus reads that correspond to the first nucleic acid fragment based on SMBs associated with the first subset of sequences reads; generating a second set of consensus reads that correspond to the second nucleic acid fragment based on SMBs associated with the second subset of sequences reads; and determining a presence of one or more genetic alterations for the test subject based on the two sets of consensus reads.

公开(公告)号：US11694768B2

公开(公告)日：2023-07-04

申请号：US16479864

申请日：2018-01-24

Applicant: Sequenom, Inc.

Inventor： John A. Tynan ,  Amin Mazloom ,  Yijin Wu ,  Mark Whidden ,  Mathias Ehrich

IPC: G16B20/10

CPC classification number: G16B20/10

Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number variations (CNVs) for a test sample. Technology provided herein is useful for classifying a genetic CNV for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.

公开(公告)号：US11560586B2

公开(公告)日：2023-01-24

申请号：US16395658

申请日：2019-04-26

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Jovan Dzakula ,  Mathias Ehrich ,  Sung Kyun Kim

IPC: C12Q1/6827 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B30/10 ,  G16H50/20

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations.