公开(公告)号：US11462298B2

公开(公告)日：2022-10-04

申请号：US16862324

申请日：2020-04-29

Applicant: SEQUENOM, INC.

Inventor： Chen Zhao ,  Zeljko Dzakula ,  Cosmin Deciu ,  Sung Kyun Kim ,  Amin R. Mazloom ,  Gregory Hannum ,  Mathias Ehrich

IPC: G16B20/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B30/10 ,  G16B30/00 ,  G16B40/00 ,  G16B25/10

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of decision analyses. The decision analyses sometimes include segmentation analyses and/or odds ratio analyses.

公开(公告)号：US11365447B2

公开(公告)日：2022-06-21

申请号：US15124324

申请日：2015-03-12

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 ,  H01J49/16

Abstract: Technology provided herein relates in part to methods, processes and apparatuses for non-invasive assessment of genetic variations. In particular the invention relates to methods and kits for detecting aneuploidy of a fetal chromosome by determining the amounts of differentially methylated regions in each of chromosomes 13, 18 and 21 in circulating cell-free nucleic acid from a human pregnant female.

公开(公告)号：US11312997B2

公开(公告)日：2022-04-26

申请号：US16884528

申请日：2020-05-27

Applicant: Sequenom, Inc.

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

IPC: 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：US20170342477A1

公开(公告)日：2017-11-30

申请号：US15607235

申请日：2017-05-26

Applicant: Sequenom, Inc.

Inventor： Taylor Jacob Jensen ,  Mathias Ehrich ,  Dirk van den Boom ,  John Allen Tynan ,  Sung Kyun Kim ,  Timothy S. Burcham ,  Christopher K. Ellison ,  Youting Sun

IPC: C12Q1/68 ,  C40B30/02 ,  G06F19/22 ,  G06F19/20

CPC classification number: C12Q1/6858 ,  C12Q1/6844 ,  C12Q1/6853 ,  C12Q1/6883 ,  C12Q1/6886 ,  C12Q2600/156 ,  C12Q2600/16 ,  G16B25/00 ,  G16B30/00 ,  G16B35/00 ,  G16C20/60 ,  G16H15/00 ,  G16H50/30 ,  C12Q2537/143 ,  C12Q2537/16 ,  C12Q2537/165 ,  C12Q2545/114

Abstract: Technology provided herein relates in part to methods, processes, machines and apparatuses for detecting genetic variations. In some embodiments, the technology is related to non-invasive assessment of aneuploidies.

公开(公告)号：US20130230858A1

公开(公告)日：2013-09-05

申请号：US13782901

申请日：2013-03-01

Applicant: SEQUENOM, INC.

Inventor： Charles R. CANTOR ,  Grace DeSANTIS ,  Reinhold Mueller ,  Mathias Ehrich

IPC: C12Q1/68

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.

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：US11929145B2

公开(公告)日：2024-03-12

申请号：US16477931

申请日：2018-01-22

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 a set of sequence reads. The sequence reads each include a single molecule barcode (SMB) sequence that is a non-random oligonucleotide sequence. The method further includes assigning the sequence reads to read groups according to a read group signature. The read group signature comprises an SMB sequence and a start and end position of a nucleic acid fragment from the circulating cell free sample nucleic acid. The sequence reads comprising start and end positions and an SMB sequence similar to the read group signature are assigned to a read group. The method further includes generating a consensus for each read group, and determining the presence or absence of a genetic alteration based on the consensus for each read group.

公开(公告)号：US20240029826A1

公开(公告)日：2024-01-25

申请号：US18317573

申请日：2023-05-15

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：US11060145B2

公开(公告)日：2021-07-13

申请号：US14772544

申请日：2014-03-13

Applicant: SEQUENOM, INC.

Inventor： Taylor Jacob Jensen ,  Mathias Ehrich

IPC: C12Q1/6883 ,  C12Q1/6811

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

公开(公告)号：US10699800B2

公开(公告)日：2020-06-30

申请号：US14892782

申请日：2014-05-23

Applicant: SEQUENOM, INC.

Inventor： Chen Zhao ,  Zeljko Dzakula ,  Cosmin Deciu ,  Sung Kyun Kim ,  Amin R. Mazloom ,  Gregory Hannum ,  Mathias Ehrich

IPC: G16B20/10 ,  C12Q1/6883 ,  C12Q1/6869 ,  G16B30/00 ,  G16B40/00

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of decision analyses. The decision analyses sometimes include segmentation analyses and/or odds ratio analyses.

公开(公告)号：US10323268B2

公开(公告)日：2019-06-18

申请号：US15149045

申请日：2016-05-06

Applicant: SEQUENOM, INC.

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

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

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