公开(公告)号：US11515003B2

公开(公告)日：2022-11-29

申请号：US15661942

申请日：2017-07-27

Applicant: Sequenom, Inc.

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

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

Abstract: 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：US20140100792A1

公开(公告)日：2014-04-10

申请号：US13781530

申请日：2013-02-28

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  Amin Mazloom

IPC: G06F19/24 ,  G06F19/22

CPC classification number: G16B40/00 ,  C12Q1/6869 ,  C12Q1/6883 ,  C12Q2545/101 ,  C12Q2545/114 ,  G16B30/00

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

公开(公告)号：US12112832B2

公开(公告)日：2024-10-08

申请号：US16573161

申请日：2019-09-17

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  Amin Mazloom

IPC: G16B20/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B30/00 ,  G16B30/10 ,  G16B30/20 ,  G16B40/00

CPC classification number: G16B20/10 ,  C12Q1/6869 ,  C12Q1/6883 ,  G16B30/00 ,  G16B30/10 ,  G16B30/20 ,  G16B40/00 ,  C12Q2545/101 ,  C12Q2545/114

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

公开(公告)号：US20220093207A1

公开(公告)日：2022-03-24

申请号：US17544537

申请日：2021-12-07

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：US20230187021A1

公开(公告)日：2023-06-15

申请号：US18045279

申请日：2022-10-10

Applicant: Sequenom, Inc.

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

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

CPC classification number: G16B20/10 ,  G16B20/00 ,  G16B20/20 ,  G16B10/00

Abstract: 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：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：US20210358565A1

公开(公告)日：2021-11-18

申请号：US16479864

申请日：2018-01-24

Applicant: Sequenom, Inc.

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

IPC: 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：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：US20240290423A1

公开(公告)日：2024-08-29

申请号：US18429954

申请日：2024-02-01

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 nucleic acid fragments from a sample from a test subject; sequencing the sequence constructs to obtain sequence reads; demultiplexing the sequence reads to a first and a second subset of sequences reads; generating a first set of consensus reads that correspond to the first nucleic acid fragment based on SMBs associated with the first subset of sequences reads; generating a second set of consensus reads that correspond to the second nucleic acid fragment based on SMBs associated with the second subset of sequences reads; and determining a presence of one or more genetic alterations for the test subject based on the two sets of consensus reads.

公开(公告)号：US20240233866A1

公开(公告)日：2024-07-11

申请号：US18429893

申请日：2024-02-01

Applicant: SEQUENOM, INC.

Inventor： Yijin Wu ,  Amin Mazloom ,  Yang Zhong ,  Mostafa Azab

IPC: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

CPC classification number: G16B20/10 ,  C12Q1/68 ,  G16B20/20 ,  G16B30/10 ,  G16B40/00

Abstract: The present invention relates to systems and methods for non-invasive assessment of genetic variation. In particular, aspects are directed to a computer-implemented method that includes ligating nucleic acid molecules with adapters to generate sequence constructs, sequencing the sequence constructs to obtain sequence reads, generating an alignment computer file including on-target sequence reads and associated genomic positioning data, generating a probe coverage data file for the sample using the on-target sequence reads and the associated genomic positioning data, generating segments and associated probe coverage quantification data for each segment using a segmentation model and the probe coverage data file, identifying genes overlapping with the segments, generating filtered segments based on the identified genes, and determining a presence or absence of a genetic variation in the sample based on the filtered segments.