公开(公告)号：US20130310260A1

公开(公告)日：2013-11-21

申请号：US13782857

申请日：2013-03-01

Applicant: SEQUENOM, INC

Inventor： Sung K. KIM ,  Cosmin Deciu

IPC: C12Q1/68

CPC classification number: C12Q1/6869 ,  G06F19/22 ,  G06F19/24

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

公开(公告)号：US20240141422A1

公开(公告)日：2024-05-02

申请号：US18500812

申请日：2023-11-02

Applicant: Sequenom, Inc.

Inventor： Chen Zhao ,  Cosmin Deciu ,  Eyad Almasri ,  Tong Liu

IPC: C12Q1/6869 ,  C12Q1/6827 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16H50/30

CPC classification number: C12Q1/6869 ,  C12Q1/6827 ,  G16B20/00 ,  G16B20/10 ,  G16B20/20 ,  G16B30/00 ,  G16B30/10 ,  G16B40/00 ,  G16H50/30 ,  C12Q2535/122

Abstract: Techniques are described for identifying a genetic variant in a test sample by comparing sequences reads obtained from the test sample to unique k-mers that are representative of a target genomic region. In one particular aspect, a method is described that includes generating a dictionary of a target genomic region having a set of unique k-mers by: accessing a sequence of the target genomic region, determining a set of k-mers for the target genomic region, comparing the set of k-mers for the target genomic region with one or more sets of k-mers for non-target genomic regions, and selecting the unique k-mers that do not appear in the one or more sets of k-mers for non-target genomic regions. The dictionary can then be used to identify a genetic variant in a test sample by comparing sequences reads obtained from the test sample to the unique k-mers in the dictionary.

公开(公告)号：US10892035B2

公开(公告)日：2021-01-12

申请号：US15517107

申请日：2015-10-09

Applicant: Sequenom, Inc.

Inventor： Cosmin Deciu ,  Chen Zhao

IPC: G16B30/00 ,  C12Q1/6869

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：US20200294625A1

公开(公告)日：2020-09-17

申请号：US16825877

申请日：2020-03-20

Applicant: Sequenom, Inc.

Inventor： Sung K. Kim ,  Gregory Hannum ,  Jennifer Geis ,  Cosmin Deciu

IPC: G16B30/00 ,  C12Q1/6816 ,  G16B20/00 ,  C12Q1/6872 ,  C12Q1/6869 ,  G16H50/20

Abstract: Provided herein are methods, processes, systems, machines 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.

公开(公告)号：US20190276874A1

公开(公告)日：2019-09-12

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

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

公开(公告)号：US10323268B2

公开(公告)日：2019-06-18

申请号：US15149045

申请日：2016-05-06

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Jovan Dzakula ,  Mathias Ehrich ,  Sung Kyun Kim

IPC: G16B20/00 ,  G16B30/10 ,  G16H50/20 ,  C12Q1/6827

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

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：US09367663B2

公开(公告)日：2016-06-14

申请号：US13669136

申请日：2012-11-05

Applicant: SEQUENOM, INC.

Inventor： Cosmin Deciu ,  Zeljko Dzakula ,  Mathias Ehrich ,  Sung Kyun Kim

IPC: G06F19/00 ,  G06F15/00 ,  G06F19/18 ,  C12Q1/68

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

Abstract: Provided herein are methods, processes and apparatuses 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，过程和装置。

公开(公告)号：US20150347676A1

公开(公告)日：2015-12-03

申请号：US14722416

申请日：2015-05-27

Applicant: Sequenom, Inc.

Inventor： Chen Zhao ,  Cosmin Deciu

IPC: G06F19/22 ,  G06F19/00

CPC classification number: C12Q1/6869 ,  C12Q1/6827 ,  C12Q2535/122 ,  G06F19/00 ,  G16B20/00 ,  G16B30/00 ,  G16B40/00 ,  G16H50/30 ,  Y02A90/26 ,  C12Q2537/16 ,  C12Q2537/165

Abstract: Technology described herein pertains in part to diagnostic tests that make use of sequence reads generated by a sequencing process. In some embodiments, a component used to generate a chromosome representation can be based on counts of sequence reads not aligned to a reference genome.

Abstract translation: 本文描述的技术部分地涉及利用由测序过程产生的序列读数的诊断测试。 在一些实施方案中，用于产生染色体表示的组分可以基于与参照基因组不对齐的序列读数的计数。