ES3064196T3 - Systems for non-invasive assessment of chromosome alterations - Google Patents

Systems for non-invasive assessment of chromosome alterations

Info

Publication number
ES3064196T3
ES3064196T3 ES20208803T ES20208803T ES3064196T3 ES 3064196 T3 ES3064196 T3 ES 3064196T3 ES 20208803 T ES20208803 T ES 20208803T ES 20208803 T ES20208803 T ES 20208803T ES 3064196 T3 ES3064196 T3 ES 3064196T3
Authority
ES
Spain
Prior art keywords
systems
invasive assessment
chromosome alterations
chromosome
alterations
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Active
Application number
ES20208803T
Other languages
English (en)
Inventor
Sung Kim
Taylor Jacob Jensen
Mathias Ehrich
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Sequenom Inc
Original Assignee
Sequenom Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Sequenom Inc filed Critical Sequenom Inc
Application granted granted Critical
Publication of ES3064196T3 publication Critical patent/ES3064196T3/es
Active legal-status Critical Current
Anticipated expiration legal-status Critical

Links

Classifications

    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10—Sequence alignment; Homology search
    • G—PHYSICS
    • G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16B—BIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20—Sequence assembly

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Health & Medical Sciences (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Engineering & Computer Science (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Chemical & Material Sciences (AREA)
  • Evolutionary Biology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
ES20208803T 2013-10-07 2014-10-03 Systems for non-invasive assessment of chromosome alterations Active ES3064196T3 (en)

Applications Claiming Priority (1)

Application Number Priority Date Filing Date Title
US201361887801P 2013-10-07 2013-10-07

Publications (1)

Publication Number Publication Date
ES3064196T3 true ES3064196T3 (en) 2026-04-23

Family

ID=51844846

Family Applications (1)

Application Number Title Priority Date Filing Date
ES20208803T Active ES3064196T3 (en) 2013-10-07 2014-10-03 Systems for non-invasive assessment of chromosome alterations

Country Status (8)

Country Link
US (3) US10438691B2 (es)
EP (4) EP3055427B1 (es)
JP (4) JP6680680B2 (es)
CN (2) CN105874082B (es)
AU (3) AU2014332241B2 (es)
CA (1) CA2925111C (es)
ES (1) ES3064196T3 (es)
WO (1) WO2015054080A1 (es)

Families Citing this family (49)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
TWI335354B (en) 2006-09-27 2011-01-01 Univ Hong Kong Chinese Methods for the detection of the degree of the methylation of a target dna and kits
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052907A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2861856C (en) 2012-01-20 2020-06-02 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10930368B2 (en) 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
KR102384620B1 (ko) 2013-10-04 2022-04-11 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
CN105874082B (zh) 2013-10-07 2020-06-02 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
IL305462A (en) 2015-07-23 2023-10-01 Univ Hong Kong Chinese DNA fragmentation pattern analysis suitable clean
EP4043581A1 (en) 2016-05-27 2022-08-17 Sequenom, Inc. Method for generating a paralog assay system
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
CA3030894A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
US11345961B2 (en) * 2016-10-05 2022-05-31 Roche Sequencing Solutions, Inc. Nucleic acid sequencing using nanotransistors
CA3049455C (en) 2017-01-20 2023-06-13 Sequenom, Inc. Sequencing adapter manufacture and use
CA3049682C (en) 2017-01-20 2023-06-27 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
CA3049457C (en) 2017-01-20 2023-05-16 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
CA3207879A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
SG11201906397UA (en) 2017-01-25 2019-08-27 Univ Hong Kong Chinese Diagnostic applications using nucleic acid fragments
WO2018152542A1 (en) * 2017-02-17 2018-08-23 The Board Of Trustees Of The Leland Stanford Junior University Accurate and sensitive unveiling of chimeric biomolecule sequences and applications thereof
CN106834490B (zh) 2017-03-02 2021-01-22 上海亿康医学检验所有限公司 一种鉴定胚胎平衡易位断裂点和平衡易位携带状态的方法
JP7370862B2 (ja) 2017-03-17 2023-10-30 セクエノム， インコーポレイテッド 遺伝子モザイク症のための方法およびプロセス
CN117116360A (zh) * 2017-03-30 2023-11-24 Illumina公司 基因组数据分析系统和方法
CN111051536A (zh) 2017-07-26 2020-04-21 香港中文大学 利用不含细胞的病毒核酸改善癌症筛选
US11728007B2 (en) * 2017-11-30 2023-08-15 Grail, Llc Methods and systems for analyzing nucleic acid sequences using mappability analysis and de novo sequence assembly
WO2019204208A1 (en) * 2018-04-16 2019-10-24 Memorial Sloan Kettering Cancer Center SYSTEMS AND METHODS FOR DETECTING CANCER VIA cfDNA SCREENING
TW202511496A (zh) * 2018-06-29 2025-03-16 美商格瑞爾有限責任公司 核酸重組及整合分析
JP7535998B2 (ja) 2018-08-31 2024-08-19 ガーダント ヘルス， インコーポレイテッド マージされたリードおよびマージされないリードに基づいた遺伝的変異体の検出
SG11202101070QA (en) 2019-08-16 2021-03-30 Univ Hong Kong Chinese Determination Of Base Modifications Of Nucleic Acids
CA3159786A1 (en) 2019-10-31 2021-05-06 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
US20230132281A1 (en) * 2020-02-14 2023-04-27 Rhode Island Hospital Rna sequencing to diagnose sepsis
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN111584003B (zh) * 2020-04-10 2022-05-10 中国人民解放军海军军医大学 病毒序列整合的优化检测方法
CN111785324B (zh) * 2020-07-02 2021-02-02 深圳市海普洛斯生物科技有限公司 一种微卫星不稳定分析方法及装置
CN111815614B (zh) * 2020-07-17 2021-04-06 中国人民解放军军事科学院军事医学研究院 基于人工智能的寄生虫检测方法、系统及终端设备
CN113920069B (zh) * 2021-09-26 2022-07-08 广州达安临床检验中心有限公司 染色体核型分析模拟数据集的构建方法、构建装置、设备及存储介质
CN117417997B (zh) * 2023-10-26 2025-07-29 上海谱希和光基因科技有限公司 一种诊断圆锥角膜的基因组生物标志物组合

Family Cites Families (165)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying nucleic acid sequences
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US5720928A (en) 1988-09-15 1998-02-24 New York University Image processing and analysis of individual nucleic acid molecules
US5075212A (en) 1989-03-27 1991-12-24 University Of Patents, Inc. Methods of detecting picornaviruses in biological fluids and tissues
US5143854A (en) 1989-06-07 1992-09-01 Affymax Technologies N.V. Large scale photolithographic solid phase synthesis of polypeptides and receptor binding screening thereof
US5641628A (en) 1989-11-13 1997-06-24 Children's Medical Center Corporation Non-invasive method for isolation and detection of fetal DNA
DE69120146T2 (de) 1990-01-12 1996-12-12 Cell Genesys Inc Erzeugung xenogener antikörper
US5091652A (en) 1990-01-12 1992-02-25 The Regents Of The University Of California Laser excited confocal microscope fluorescence scanner and method
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
DK0699687T3 (da) 1994-08-31 2004-04-26 Mitsubishi Pharma Corp Fremgangsmåde til oprensning af rekombinant humant serumalbumin
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
JPH10513043A (ja) 1994-12-23 1998-12-15 インペリアル カレッジ オブ サイエンス，テクノロジー アンド メディシン 自動化ｄｎａ塩基配列決定法
US5795782A (en) 1995-03-17 1998-08-18 President & Fellows Of Harvard College Characterization of individual polymer molecules based on monomer-interface interactions
US5670325A (en) 1996-08-14 1997-09-23 Exact Laboratories, Inc. Method for the detection of clonal populations of transformed cells in a genomically heterogeneous cellular sample
JP2000510582A (ja) 1996-04-25 2000-08-15 ゼニコン・サイエンシーズ・コーポレーション 微粒子標識を使用した分析物アッセイ
US5786146A (en) 1996-06-03 1998-07-28 The Johns Hopkins University School Of Medicine Method of detection of methylated nucleic acid using agents which modify unmethylated cytosine and distinguishing modified methylated and non-methylated nucleic acids
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US6300077B1 (en) 1996-08-14 2001-10-09 Exact Sciences Corporation Methods for the detection of nucleic acids
US5928870A (en) 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
US6403311B1 (en) 1997-02-12 2002-06-11 Us Genomics Methods of analyzing polymers using ordered label strategies
GB9704444D0 (en) 1997-03-04 1997-04-23 Isis Innovation Non-invasive prenatal diagnosis
US6566101B1 (en) 1997-06-16 2003-05-20 Anthony P. Shuber Primer extension methods for detecting nucleic acids
US6570001B1 (en) 1997-06-20 2003-05-27 Institut Pasteur Polynucleotides and their use for detecting resistance to streptogramin A or to streptogramin B and related compounds
WO2000006770A1 (en) 1998-07-30 2000-02-10 Solexa Ltd. Arrayed biomolecules and their use in sequencing
US6263286B1 (en) 1998-08-13 2001-07-17 U.S. Genomics, Inc. Methods of analyzing polymers using a spatial network of fluorophores and fluorescence resonance energy transfer
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
DE19932890A1 (de) 1999-07-19 2001-02-01 Deutsches Krebsforsch DNA zum Nachweis von Veränderungen des Chromosoms 8
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
EP1212462B1 (en) 1999-09-07 2006-01-25 The Regents of the University of California Methods of determining the presence of double stranded nucleic acids in a sample
AU7537200A (en) 1999-09-29 2001-04-30 Solexa Ltd. Polynucleotide sequencing
DE60027040T2 (de) 1999-10-29 2006-11-23 Stratagene California, La Jolla Zusammensetzungen und methoden zur verwendung von dna polymerasen
WO2001062952A1 (en) 2000-02-24 2001-08-30 Dna Sciences, Inc. Methods for determining single nucleotide variations
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
WO2002042496A2 (en) 2000-11-27 2002-05-30 The Regents Of The University Of California Methods and devices for characterizing duplex nucleic acid molecules
DE10112515B4 (de) 2001-03-09 2004-02-12 Epigenomics Ag Verfahren zum Nachweis von Cytosin-Methylierungsmustern mit hoher Sensitivität
JP2004523243A (ja) 2001-03-12 2004-08-05 カリフォルニア インスティチュート オブ テクノロジー 非同期性塩基伸長によってポリヌクレオチド配列を分析するための方法および装置
EP1478771A4 (en) 2001-06-21 2005-06-15 Harvard College METHODS OF CHARACTERIZING NUCLEIC ACID MOLECULES
US6927028B2 (en) 2001-08-31 2005-08-09 Chinese University Of Hong Kong Non-invasive methods for detecting non-host DNA in a host using epigenetic differences between the host and non-host DNA
US20030157489A1 (en) 2002-01-11 2003-08-21 Michael Wall Recursive categorical sequence assembly
US6977162B2 (en) 2002-03-01 2005-12-20 Ravgen, Inc. Rapid analysis of variations in a genome
US7285394B2 (en) 2002-03-15 2007-10-23 Epigenomics Ag Discovery and diagnostic methods using 5-methylcytosine DNA glycosylase
US20040110208A1 (en) 2002-03-26 2004-06-10 Selena Chan Methods and device for DNA sequencing using surface enhanced Raman scattering (SERS)
US7744816B2 (en) 2002-05-01 2010-06-29 Intel Corporation Methods and device for biomolecule characterization
US20050019784A1 (en) 2002-05-20 2005-01-27 Xing Su Method and apparatus for nucleic acid sequencing and identification
US7005264B2 (en) 2002-05-20 2006-02-28 Intel Corporation Method and apparatus for nucleic acid sequencing and identification
US6952651B2 (en) 2002-06-17 2005-10-04 Intel Corporation Methods and apparatus for nucleic acid sequencing by signal stretching and data integration
CN102344960B (zh) 2002-09-06 2014-06-18 波士顿大学信托人 基因表达的定量
AU2003298733B2 (en) 2002-11-27 2009-06-18 Agena Bioscience, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
US7629123B2 (en) * 2003-07-03 2009-12-08 University Of Medicine And Dentistry Of New Jersey Compositions and methods for diagnosing autism
US8048627B2 (en) 2003-07-05 2011-11-01 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
WO2005017025A2 (en) 2003-08-15 2005-02-24 The President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
WO2005023091A2 (en) 2003-09-05 2005-03-17 The Trustees Of Boston University Method for non-invasive prenatal diagnosis
ATE435301T1 (de) 2003-10-16 2009-07-15 Sequenom Inc Nicht invasiver nachweis fötaler genetischer merkmale
US20050095599A1 (en) 2003-10-30 2005-05-05 Pittaro Richard J. Detection and identification of biopolymers using fluorescence quenching
US7169560B2 (en) 2003-11-12 2007-01-30 Helicos Biosciences Corporation Short cycle methods for sequencing polynucleotides
US20050147980A1 (en) 2003-12-30 2005-07-07 Intel Corporation Nucleic acid sequencing by Raman monitoring of uptake of nucleotides during molecular replication
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
US7279337B2 (en) 2004-03-10 2007-10-09 Agilent Technologies, Inc. Method and apparatus for sequencing polymers through tunneling conductance variation detection
US7238485B2 (en) 2004-03-23 2007-07-03 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
US7972858B2 (en) 2004-08-13 2011-07-05 President And Fellows Of Harvard College Ultra high-throughput opti-nanopore DNA readout platform
JP5149013B2 (ja) 2004-11-29 2013-02-20 セクエノム，インコーポレイティド メチル化ｄｎａを検出する手段、及び方法
US7645576B2 (en) 2005-03-18 2010-01-12 The Chinese University Of Hong Kong Method for the detection of chromosomal aneuploidies
US7960105B2 (en) 2005-11-29 2011-06-14 National Institutes Of Health Method of DNA analysis using micro/nanochannel
JPWO2007063807A1 (ja) 2005-11-29 2009-05-07 オリンパス株式会社 核酸の一次構造変化の解析方法
EP3591068A1 (en) 2006-02-02 2020-01-08 The Board of Trustees of the Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
CN101401101B (zh) 2006-03-10 2014-06-04 皇家飞利浦电子股份有限公司 用于通过谱分析鉴定dna模式的方法和系统
US7282337B1 (en) 2006-04-14 2007-10-16 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US20090075252A1 (en) 2006-04-14 2009-03-19 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
EP3617321B1 (en) 2006-05-31 2024-10-23 Sequenom, Inc. Kit for the extraction and amplification of nucleic acid from a sample
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
JP2009540802A (ja) 2006-06-16 2009-11-26 セクエノム， インコーポレイテッド サンプルからの核酸を増幅、検出および定量するための方法および組成物
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
EP1944273A1 (en) 2007-01-15 2008-07-16 Rockwool International A/S Process and apparatus for making mineral fibers
US8003319B2 (en) 2007-02-02 2011-08-23 International Business Machines Corporation Systems and methods for controlling position of charged polymer inside nanopore
EP2604344A3 (en) 2007-03-28 2014-07-16 BioNano Genomics, Inc. Methods of macromolecular analysis using nanochannel arrays
EP2156179B1 (en) 2007-04-04 2021-08-18 The Regents of The University of California Methods for using a nanopore
GB0713143D0 (en) 2007-07-06 2007-08-15 Ucl Business Plc Nucleic acid detection method
PL2557520T3 (pl) 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
WO2009032781A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
CN101889074A (zh) 2007-10-04 2010-11-17 哈尔西恩莫尔丘勒公司 采用电子显微镜对核酸聚合物测序
US7767400B2 (en) 2008-02-03 2010-08-03 Helicos Biosciences Corporation Paired-end reads in sequencing by synthesis
CN101230403B (zh) 2008-02-21 2010-12-29 浙江理工大学 解析染色体端粒g-末端序列的方法
EP2271772B1 (en) 2008-03-11 2014-07-16 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
WO2009120808A2 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
US8628919B2 (en) 2008-06-30 2014-01-14 Bionano Genomics, Inc. Methods and devices for single-molecule whole genome analysis
EP2310534B1 (en) 2008-07-07 2018-09-05 Oxford Nanopore Technologies Limited Base-detecting pore
US20110229877A1 (en) 2008-07-07 2011-09-22 Oxford Nanopore Technologies Limited Enzyme-pore constructs
US8476013B2 (en) 2008-09-16 2013-07-02 Sequenom, Inc. Processes and compositions for methylation-based acid enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
EP3103871B1 (en) 2008-09-16 2020-07-29 Sequenom, Inc. Processes for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for fetal nucleic acid quantification
CA3069082C (en) 2008-09-20 2022-03-22 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
EP2364368B1 (en) 2008-11-07 2014-01-15 Sequenta, Inc. Methods of monitoring conditions by sequence analysis
WO2010056728A1 (en) 2008-11-11 2010-05-20 Helicos Biosciences Corporation Nucleic acid encoding for multiplex analysis
CN108467887A (zh) 2008-11-18 2018-08-31 生物纳米基因公司 多核苷酸作图和测序
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
KR101781147B1 (ko) 2008-12-22 2017-10-10 셀루라 인코포레이티드 대립유전자, 게놈 및 전사체 검출을 위한 방법 및 유전자형 분석 패널
WO2010082815A1 (en) 2009-01-13 2010-07-22 Keygene N.V. Novel genome sequencing strategies
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
EP3514244B1 (en) 2009-04-03 2021-07-07 Sequenom, Inc. Nucleic acid preparation methods
US8246799B2 (en) 2009-05-28 2012-08-21 Nabsys, Inc. Devices and methods for analyzing biomolecules and probes bound thereto
US20100330557A1 (en) 2009-06-30 2010-12-30 Zohar Yakhini Genomic coordinate system
CN102858985A (zh) * 2009-07-24 2013-01-02 西格马-奥尔德里奇有限责任公司 基因组编辑方法
US20120192298A1 (en) 2009-07-24 2012-07-26 Sigma Aldrich Co. Llc Method for genome editing
WO2011038327A1 (en) 2009-09-28 2011-03-31 Bionanomatrix, Inc. Nanochannel arrays and near-field illumination devices for polymer analysis and related methods
EP2491138A1 (en) 2009-10-21 2012-08-29 Bionano Genomics, Inc. Methods and related devices for single molecule whole genome analysis
EP3783110B1 (en) 2009-11-05 2022-11-23 The Chinese University Of Hong Kong Fetal genomic analysis from a maternal biological sample
ES2577017T3 (es) 2009-12-22 2016-07-12 Sequenom, Inc. Procedimientos y kits para identificar la aneuploidia
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
EP2513341B1 (en) 2010-01-19 2017-04-12 Verinata Health, Inc Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
WO2011091063A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Partition defined detection methods
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
EP2370599B1 (en) 2010-01-19 2015-01-21 Verinata Health, Inc Method for determining copy number variations
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
WO2011143659A2 (en) 2010-05-14 2011-11-17 Fluidigm Corporation Nucleic acid isolation methods
WO2011146632A1 (en) 2010-05-18 2011-11-24 Gene Security Network Inc. Methods for non-invasive prenatal ploidy calling
KR102042253B1 (ko) * 2010-05-25 2019-11-07 더 리젠츠 오브 더 유니버시티 오브 캘리포니아 Ｂａｍｂａｍ：고처리율 서열분석 데이터의 병렬 비교 분석
EP2591433A4 (en) 2010-07-06 2017-05-17 Life Technologies Corporation Systems and methods to detect copy number variation
WO2012012703A2 (en) 2010-07-23 2012-01-26 Esoterix Genetic Laboratories, Llc Identification of differentially represented fetal or maternal genomic regions and uses thereof
CN103608466B (zh) 2010-12-22 2020-09-18 纳特拉公司 非侵入性产前亲子鉴定方法
WO2012088348A2 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
RU2013138422A (ru) 2011-01-19 2015-02-27 Конинклейке Филипс Электроникс Н.В. Способ обработки геномных данных
US20120190020A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
RU2671980C2 (ru) 2011-02-09 2018-11-08 Натера, Инк. Способы неинвазивного пренатального установления плоидности
WO2012118745A1 (en) 2011-02-28 2012-09-07 Arnold Oliphant Assay systems for detection of aneuploidy and sex determination
GB2484764B (en) 2011-04-14 2012-09-05 Verinata Health Inc Normalizing chromosomes for the determination and verification of common and rare chromosomal aneuploidies
ES2605372T3 (es) 2011-05-31 2017-03-14 Berry Genomics Co., Ltd. Un dispositivo para detectar el número de copias de cromosomas fetales o cromosomas de células tumorales
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
PL2561103T3 (pl) 2011-06-29 2015-02-27 Bgi Diagnosis Co Ltd Nieinwazyjna detekcja anomalii genetycznych płodu
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
CN102409088B (zh) 2011-09-22 2014-11-12 郭奇伟 一种基因拷贝数变异的检测方法
US10196681B2 (en) 2011-10-06 2019-02-05 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6073902B2 (ja) 2011-10-06 2017-02-01 セクエノム， インコーポレイテッド 遺伝的変異の非侵襲的評価のための方法およびプロセス
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013052907A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
ES2624686T3 (es) 2011-10-11 2017-07-17 Sequenom, Inc. Métodos y procesos para la evaluación no invasiva de variaciones genéticas
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2858688A1 (en) 2011-12-08 2013-06-13 Five3 Genomics, Llc Mdm2-containing double minute chromosomes and methods therefore
CA2861856C (en) * 2012-01-20 2020-06-02 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
CA2866324C (en) 2012-03-13 2019-01-15 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3978621B1 (en) 2012-05-21 2023-08-30 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CN104781421B (zh) 2012-09-04 2020-06-05 夸登特健康公司 检测稀有突变和拷贝数变异的系统和方法
CA3120521A1 (en) 2012-10-04 2014-04-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10930368B2 (en) 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
ES3037160T3 (en) 2013-06-21 2025-09-29 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
US10174375B2 (en) 2013-09-20 2019-01-08 The Chinese University Of Hong Kong Sequencing analysis of circulating DNA to detect and monitor autoimmune diseases
KR102384620B1 (ko) 2013-10-04 2022-04-11 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
CN105874082B (zh) 2013-10-07 2020-06-02 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
EP3149640B1 (en) 2014-05-30 2019-09-04 Sequenom, Inc. Chromosome representation determinations
US11783911B2 (en) 2014-07-30 2023-10-10 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations

Also Published As

Publication number Publication date
CA2925111C (en) 2024-01-16
AU2024204048A1 (en) 2024-07-04
AU2021209224B2 (en) 2024-03-14
US20200058372A1 (en) 2020-02-20
JP2022191522A (ja) 2022-12-27
AU2021209224A1 (en) 2021-08-19
EP3055427B1 (en) 2018-09-12
EP3495496A1 (en) 2019-06-12
JP2025024062A (ja) 2025-02-19
WO2015054080A1 (en) 2015-04-16
US20240371468A1 (en) 2024-11-07
CA2925111A1 (en) 2015-04-16
AU2014332241B2 (en) 2021-04-29
CN105874082B (zh) 2020-06-02
JP6680680B2 (ja) 2020-04-15
EP3851539B1 (en) 2026-01-07
EP3055427A1 (en) 2016-08-17
EP4738371A2 (en) 2026-05-06
EP3495496B1 (en) 2020-11-25
CN111863131A (zh) 2020-10-30
EP3851539C0 (en) 2026-01-07
EP3851539A1 (en) 2021-07-21
US10438691B2 (en) 2019-10-08
AU2014332241A1 (en) 2016-05-19
US11929146B2 (en) 2024-03-12
JP2016540520A (ja) 2016-12-28
US20160292356A1 (en) 2016-10-06
JP2020110173A (ja) 2020-07-27
CN105874082A (zh) 2016-08-17

Similar Documents

Publication Publication Date Title
ES3064196T3 (en) Systems for non-invasive assessment of chromosome alterations
ZA201800913B (en) Syk inhibitors
SMT201900206T1 (it) Metodo per la valutazione non invasiva di variazioni genetiche
IL243578A0 (en) syk inhibitors
IL240326A0 (en) Glaucoma treatment system
ZA201507110B (en) Crystal modifications of elobixibat
GB201421334D0 (en) Synthesis of aeizeolite
AP2016009008A0 (en) Polymorph of syk inhibitors
GB201314578D0 (en) Bicyclic inhibitors
GB2517174B (en) Assessment of structural health
GB201301654D0 (en) Tracking system
GB201313052D0 (en) Reduction of epileptic seizures
GB201410953D0 (en) Risk assessment system
GB201301942D0 (en) Tracking System
GB201305588D0 (en) Assessment of risk of aneuploidy
GB201312336D0 (en) Detection of Brain Cancer
GB201304608D0 (en) BenTime of Yisrael operable arrangement
GB201314320D0 (en) Tracking System
GB201320172D0 (en) Systems and methods for synthesis of nanostructures
GB201304627D0 (en) Tracking of cable
GB201310927D0 (en) Systems and methods for synthesis of nanostructures
GB201310929D0 (en) Systems and methods for synthesis of nanostructures