公开(公告)号：US11694768B2

公开(公告)日：2023-07-04

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

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：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：US11929143B2

公开(公告)日：2024-03-12

申请号：US16477923

申请日：2018-01-22

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: Technology provided herein relates in part to methods, processes, machines and apparatuses for non-invasive assessment of copy number alterations. In particular, a method is provided for determining presence or absence of a copy number alteration for a test subject. The method includes providing a set of sequence reads. The sequence reads may be obtained from circulating cell free sample nucleic acid from a test sample obtained from the test subject, and the circulating cell free sample nucleic acid may be captured by probe oligonucleotides under hybridization conditions. The method further includes determining a probe coverage quantification of the sequence reads for the probe oligonucleotides and determining the presence or absence of a copy number alteration in the circulating cell free sample nucleic acid based on the probe coverage quantification of the sequence reads for the probe oligonucleotides for the test sample.

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：US20180032671A1

公开(公告)日：2018-02-01

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: G06F19/24 ,  G06N7/00

CPC classification number: G16B40/00 ,  G06N7/005 ,  G16B20/00

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：US20180032666A1

公开(公告)日：2018-02-01

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: G06F19/18

CPC classification number: G16B20/00 ,  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：US08688388B2

公开(公告)日：2014-04-01

申请号：US13656328

申请日：2012-10-19

Applicant: Sequenom, Inc

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

IPC: G06F19/00 ,  G06F15/00

CPC classification number: G06F19/24 ,  C12Q1/6879 ,  C12Q2600/158

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：US20130103320A1

公开(公告)日：2013-04-25

申请号：US13656328

申请日：2012-10-19

Applicant: SEQUENOM, INC

Inventor： Zeljko DZAKULA ,  Cosmin Deciu ,  Amin Mazloom ,  Huiquan Wang

IPC: G06F19/24

CPC classification number: G06F19/24 ,  C12Q1/6879 ,  C12Q2600/158

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