公开(公告)号：US10196681B2

公开(公告)日：2019-02-05

申请号：US13829164

申请日：2013-03-14

Applicant: SEQUENOM, INC.

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

IPC: C12Q1/683 ,  G06F19/18 ,  C12Q1/6827 ,  G06F19/00 ,  C12Q1/68

Abstract: Provided herein are methods, processes and apparatuses for determining the fraction of fetal nucleic acid in a test sample derived from a pregnant female with improved accuracy and/or precision. Also, provided herein are methods, processes and apparatuses for determining the presence or absence of a genetic variation in a fetus with improved accuracy and/or precision. Certain methods include using fetal fraction measurements for the determination of a fetal genetic variation.

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：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：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.

公开(公告)号：US10424394B2

公开(公告)日：2019-09-24

申请号：US13829373

申请日：2013-03-14

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula

IPC: G16B30/00 ,  C12Q1/6827 ,  G16B20/00

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

公开(公告)号：US20130288244A1

公开(公告)日：2013-10-31

申请号：US13829164

申请日：2013-03-14

Applicant: Sequenom, Inc.

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

IPC: C12Q1/68

CPC classification number: C12Q1/683 ,  C12Q1/6827 ,  C12Q2600/156 ,  G06F19/18 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: Provided herein are 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.