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：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：US11492659B2

公开(公告)日：2022-11-08

申请号：US16215254

申请日：2018-12-10

Applicant: Sequenom, Inc.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  John Allen Tynan ,  Grant Hogg

IPC: C12Q1/683 ,  G16B20/00 ,  C12Q1/6827 ,  G16B20/10 ,  G16B30/00 ,  C12Q1/6869 ,  C12Q1/6883

Abstract: Provided herein are methods for determining fetal ploidy according to nucleic acid sequence reads. Nucleic acid sequence reads may be obtained from test sample nucleic acid comprising circulating cell-free nucleic acid from the blood of a pregnant female bearing a fetus. Fetal ploidy may be determined according to genomic section levels and a fraction of fetal nucleic acid in a test sample.

公开(公告)号：US11437121B2

公开(公告)日：2022-09-06

申请号：US15959880

申请日：2018-04-23

Applicant: SEQUENOM, INC.

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

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

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

公开(公告)号：US11306354B2

公开(公告)日：2022-04-19

申请号：US15894283

申请日：2018-02-12

Applicant: SEQUENOM, INC.

Inventor： Sung K. Kim ,  Cosmin Deciu

IPC: C12Q1/6869 ,  G16B30/00 ,  G16B30/20 ,  G16B30/10 ,  G16B40/00 ,  G16B40/10

Abstract: Technology provided herein relates in part to methods, processes, compositions and apparatuses for analyzing nucleic acid.

公开(公告)号：US11200963B2

公开(公告)日：2021-12-14

申请号：US15661804

申请日：2017-07-27

Applicant: Sequenom, Inc.

Inventor： Amin Mazloom ,  Cosmin Deciu ,  Chen Zhao ,  Tong Liu ,  Yijin Wu

IPC: G16B20/10 ,  G16B40/00 ,  G16B20/00 ,  G16B20/20 ,  G06N7/00

Abstract: Technology provided herein relates in part to non-invasive classification of one or more genetic copy number alterations (CNAs) for a test sample. Certain methods include sampling a quantification of sequence reads from parts of a genome, generating a confidence determination, and using the confidence determination to enhance classification. Technology provided herein is useful for classifying a genetic CNA for a sample as part of non-invasive pre-natal (NIPT) testing and oncology testing, for example.

公开(公告)号：US11180799B2

公开(公告)日：2021-11-23

申请号：US15892241

申请日：2018-02-08

Applicant: SEQUENOM, INC.

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

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

Abstract: 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：US10930368B2

公开(公告)日：2021-02-23

申请号：US14781987

申请日：2014-04-02

Applicant: SEQUENOM, INC.

Inventor： Zeljko Dzakula ,  Chen Zhao ,  Cosmin Deciu

IPC: G16B20/00 ,  G16B30/00 ,  G16B40/00 ,  G06F17/18

Abstract: A method and system for analyzing circulating cell-free nucleic acids from a pregnant female with reduced bias, Counts of sequence reads mapped to portions of a reference genome are obtained. A regression model is generated that models the relationship between the counts and the GC content. The read counts are normalized according to the regression model to remove the GC bias. The normalized counts are used for further analysis, such as the detection of fetal aneuploidy.

公开(公告)号：US20200160934A1

公开(公告)日：2020-05-21

申请号：US16698678

申请日：2019-11-27

Applicant: Sequenom, Inc.

Inventor： Zeljko Dzakula ,  Amin R. Mazloom ,  Cosmin Deciu ,  Huiquan Wang

IPC: G16B20/00 ,  G16B20/10 ,  C12Q1/6809

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

公开(公告)号：US10482994B2

公开(公告)日：2019-11-19

申请号：US13781530

申请日：2013-02-28

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  Amin Mazloom

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

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