公开(公告)号：US11929146B2

公开(公告)日：2024-03-12

申请号：US16544316

申请日：2019-08-19

申请人： SEQUENOM, INC.

发明人： Sung Kim ,  Taylor Jacob Jensen ,  Mathias Ehrich

IPC分类号： G16B20/20 ,  G16B20/00 ,  G16B20/10 ,  G16B30/00 ,  G16B30/10 ,  G16B30/20

CPC分类号： G16B20/20 ,  G16B20/00 ,  G16B20/10 ,  G16B30/00 ,  G16B30/10 ,  G16B30/20

摘要： Provided herein are methods, processes, systems, machines and apparatuses for non-invasive assessment of chromosome alterations.

公开(公告)号：US20230187021A1

公开(公告)日：2023-06-15

申请号：US18045279

申请日：2022-10-10

申请人： Sequenom, Inc.

发明人： Youting Sun ,  Sung Kyun Kim ,  Mathias Ehrich ,  Christopher Ellison ,  Taylor Jensen ,  Amin Mazloom

IPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20

CPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20 ,  G16B10/00

摘要： Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability.

公开(公告)号：US11437121B2

公开(公告)日：2022-09-06

申请号：US15959880

申请日：2018-04-23

申请人： SEQUENOM, INC.

发明人： Cosmin Deciu ,  Zeljko Dzakula ,  Mathias Ehrich ,  Taylor Jacob Jensen

IPC分类号： G16B20/20 ,  G16B20/00 ,  G16B30/00 ,  C12Q1/6883 ,  G16B20/40 ,  G16B30/20 ,  G16B30/10 ,  G16B20/10

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

公开(公告)号：US11180799B2

公开(公告)日：2021-11-23

申请号：US15892241

申请日：2018-02-08

申请人： SEQUENOM, INC.

发明人： Mathias Ehrich ,  Guy Del Mistro ,  Cosmin Deciu ,  Yong Qing Chen ,  Ron Michael McCullough ,  Roger Chan Tim

IPC分类号： C12Q1/686 ,  G16B25/00 ,  C12Q1/6883 ,  C12Q1/6886 ,  G16B25/20

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.

公开(公告)号：US20210358565A1

公开(公告)日：2021-11-18

申请号：US16479864

申请日：2018-01-24

申请人： Sequenom, Inc.

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

IPC分类号： G16B20/10

摘要： 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：US10438691B2

公开(公告)日：2019-10-08

申请号：US15026939

申请日：2014-10-03

申请人： SEQUENOM, INC.

发明人： Sung Kim ,  Taylor Jacob Jensen ,  Mathias Ehrich

IPC分类号： G16B30/00 ,  G16B20/00

摘要： Provided herein are methods, processes, systems, machines and apparatuses for non-invasive assessment of chromosome alterations.

公开(公告)号：US11697849B2

公开(公告)日：2023-07-11

申请号：US13754817

申请日：2013-01-30

申请人： SEQUENOM, INC.

发明人： Cosmin Deciu ,  Mathias Ehrich ,  Dirk J. van den Boom ,  Zeljko Dzakula

IPC分类号： C40B20/00 ,  C12Q1/6883

CPC分类号： C12Q1/6883 ,  C12Q2600/156

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

公开(公告)号：US11515003B2

公开(公告)日：2022-11-29

申请号：US15661942

申请日：2017-07-27

申请人： Sequenom, Inc.

发明人： Youting Sun ,  Sung Kyun Kim ,  Mathias Ehrich ,  Christopher Ellison ,  Taylor Jensen ,  Amin Mazloom

IPC分类号： G16B20/10 ,  G16B20/00 ,  G16B20/20 ,  G16B10/00

摘要： Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of genomic nucleic acid instability and genomic nucleic acid stability. The method comprises providing a set of genomic portions each coupled to a copy number alteration quantification for a test sample, wherein the genomic portions comprises portions of a reference genome to which sequence reads obtained for nucleic acid from a test sample obtained from the subject have been mapped, and the copy number alteration quantification coupled to each genomic portion has been determined from a quantification of sequence reads mapped to the genomic portion; and determining, by a computing device, presence or absence of genomic instability for the subject according to the copy number alteration quantifications coupled to the genomic portions.

公开(公告)号：US20220356523A1

公开(公告)日：2022-11-10

申请号：US17704296

申请日：2022-03-25

申请人： Sequenom, Inc.

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

IPC分类号： C12Q1/6883 ,  C07K16/18 ,  C12Q1/6804

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

公开(公告)号：US10738359B2

公开(公告)日：2020-08-11

申请号：US15443051

申请日：2017-02-27

申请人： SEQUENOM, INC.

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

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

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