公开(公告)号：US20210174894A1

公开(公告)日：2021-06-10

申请号：US17109723

申请日：2020-12-02

Applicant: SEQUENOM, INC.

Inventor： Zeljko DZAKULA ,  Cosmin DECIU ,  Chen ZHAO

IPC: G16B20/00 ,  G16B40/00 ,  G16B30/00 ,  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：US20170351811A1

公开(公告)日：2017-12-07

申请号：US15329016

申请日：2015-07-29

Applicant: SEQUENOM, INC.

Inventor： Chen ZHAO ,  Cosmin DECIU ,  Dirk Johannes VAN DEN BOOM

IPC: G06F19/24 ,  C12Q1/68

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

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：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：US20240161866A1

公开(公告)日：2024-05-16

申请号：US18459747

申请日：2023-09-01

Applicant: SEQUENOM, INC.

Inventor： Chen ZHAO ,  Cosmin DECIU ,  Dirk Johannes VAN DEN BOOM

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

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

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

公开(公告)号：US20220415435A1

公开(公告)日：2022-12-29

申请号：US17870178

申请日：2022-07-21

Applicant: SEQUENOM, INC.

Inventor： Chen ZHAO ,  Zeljko DZAKULA ,  Cosmin DECIU ,  Sung Kyun KIM ,  Amin MAZLOOM ,  Gregory HANNUM ,  Mathias EHRICH

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

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：US20200265921A1

公开(公告)日：2020-08-20

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

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：US20170316150A1

公开(公告)日：2017-11-02

申请号：US15517107

申请日：2015-10-09

Applicant: Sequenom, Inc.

Inventor： Cosmin DECIU ,  Chen ZHAO

IPC: G06F19/22

CPC classification number: G16B30/00 ,  C12Q1/6869 ,  C12Q2537/165

Abstract: Provided herein are methods, processes and apparatuses for non-invasive assessment of genetic variations that make use of nucleic acid fragments from circulating cell free nucleic acid. Also provided herein are methods for partitioning one or more genomic regions of a reference genome into a plurality of portions according to one or more features.

公开(公告)号：US20160224724A1

公开(公告)日：2016-08-04

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: G06F19/20

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.

Abstract translation: 本文提供了利用决策分析进行遗传变异的非侵入式评估的方法，过程和装置。 决策分析有时包括分段分析和/或优势比分析。

公开(公告)号：US20160110497A1

公开(公告)日：2016-04-21

申请号：US14781987

申请日：2014-04-02

Applicant: SEQUENOM INC.

Inventor： Zeljko DZAKULA ,  Chen ZHAO ,  Cosmin DECIU

IPC: G06F19/18 ,  G06F19/22 ,  G06F19/24 ,  G06F17/18

CPC classification number: G16B20/00 ,  G06F17/18 ,  G16B30/00 ,  G16B40/00

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

Abstract translation: 本文提供了用于遗传变异的非侵入性评估的方法，过程，装置和机器。