[go: up one dir, main page]

PL2805280T3 - Procesy diagnostyczne będące czynnikiem warunków doświadczalnych - Google Patents

Procesy diagnostyczne będące czynnikiem warunków doświadczalnych

Info

Publication number
PL2805280T3
PL2805280T3 PL13707938.0T PL13707938T PL2805280T3 PL 2805280 T3 PL2805280 T3 PL 2805280T3 PL 13707938 T PL13707938 T PL 13707938T PL 2805280 T3 PL2805280 T3 PL 2805280T3
Authority
PL
Poland
Prior art keywords
experimental conditions
diagnostic processes
factor experimental
factor
diagnostic
Prior art date
Application number
PL13707938.0T
Other languages
English (en)
Inventor
Cosmin Deciu
Mathias Ehrich
Dirk Johannes Van Den Boom
Zeljko Dzakula
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
Priority claimed from PCT/US2012/059123 external-priority patent/WO2013052913A2/en
Application filed by Sequenom, Inc. filed Critical Sequenom, Inc.
Publication of PL2805280T3 publication Critical patent/PL2805280T3/pl

Links

Classifications

    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/20Sequence assembly
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Engineering & Computer Science (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Medical Informatics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
PL13707938.0T 2012-01-20 2013-01-18 Procesy diagnostyczne będące czynnikiem warunków doświadczalnych PL2805280T3 (pl)

Applications Claiming Priority (5)

Application Number Priority Date Filing Date Title
US201261589202P 2012-01-20 2012-01-20
US201261663477P 2012-06-22 2012-06-22
US201261709899P 2012-10-04 2012-10-04
PCT/US2012/059123 WO2013052913A2 (en) 2011-10-06 2012-10-05 Methods and processes for non-invasive assessment of genetic variations
PCT/US2013/022290 WO2013109981A1 (en) 2012-01-20 2013-01-18 Diagnostic processes that factor experimental conditions

Publications (1)

Publication Number Publication Date
PL2805280T3 true PL2805280T3 (pl) 2022-11-21

Family

ID=48799714

Family Applications (1)

Application Number Title Priority Date Filing Date
PL13707938.0T PL2805280T3 (pl) 2012-01-20 2013-01-18 Procesy diagnostyczne będące czynnikiem warunków doświadczalnych

Country Status (10)

Country Link
US (1) US11697849B2 (pl)
EP (2) EP4148739A1 (pl)
JP (2) JP6431769B2 (pl)
AU (1) AU2013209499B2 (pl)
CA (1) CA2861856C (pl)
ES (1) ES2929923T3 (pl)
HU (1) HUE059847T2 (pl)
LT (1) LT2805280T (pl)
PL (1) PL2805280T3 (pl)
WO (1) WO2013109981A1 (pl)

Families Citing this family (90)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
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
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex genetic variations
CA2850785C (en) 2011-10-06 2022-12-13 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
US9605313B2 (en) 2012-03-02 2017-03-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
US20140100126A1 (en) * 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
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
CN105229168B (zh) 2013-02-20 2020-07-17 生物纳米基因有限公司 纳米流体中分子的表征
US10844424B2 (en) 2013-02-20 2020-11-24 Bionano Genomics, Inc. Reduction of bias in genomic coverage measurements
EP3597774A1 (en) 2013-03-13 2020-01-22 Sequenom, Inc. Primers for dna methylation analysis
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3011051B1 (en) 2013-06-21 2019-01-30 Sequenom, Inc. Method for non-invasive assessment of genetic variations
US20150073894A1 (en) * 2013-09-06 2015-03-12 Metamarkets Group Inc. Suspect Anomaly Detection and Presentation within Context
BR112016007401B1 (pt) * 2013-10-04 2023-04-11 Sequenom, Inc. Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra
EP3495496B1 (en) * 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
EP4227947A1 (en) * 2013-10-21 2023-08-16 Verinata Health, Inc. Method for improving the sensitivity of detection in determining copy number variations
GB2520765A (en) 2013-12-02 2015-06-03 Vanadis Diagnostics Ab Multiplex detection of nucleic acids
US10417258B2 (en) 2013-12-19 2019-09-17 Exposit Labs, Inc. Interactive multi-dimensional nested table supporting scalable real-time querying of large data volumes
CN106164295B (zh) 2014-02-25 2020-08-11 生物纳米基因公司 减小基因组覆盖测量中的偏差
EP3117011B1 (en) 2014-03-13 2020-05-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US11151460B2 (en) * 2014-03-26 2021-10-19 Unanimous A. I., Inc. Adaptive population optimization for amplifying the intelligence of crowds and swarms
US12001667B2 (en) 2014-03-26 2024-06-04 Unanimous A. I., Inc. Real-time collaborative slider-swarm with deadbands for amplified collective intelligence
US12099936B2 (en) 2014-03-26 2024-09-24 Unanimous A. I., Inc. Systems and methods for curating an optimized population of networked forecasting participants from a baseline population
US11269502B2 (en) 2014-03-26 2022-03-08 Unanimous A. I., Inc. Interactive behavioral polling and machine learning for amplification of group intelligence
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
EP3134541B1 (en) 2014-04-21 2020-08-19 Natera, Inc. Detecting copy number variations (cnv) of chromosomal segments in cancer
WO2015181718A1 (en) * 2014-05-26 2015-12-03 Ebios Futura S.R.L. Method of prenatal diagnosis
JP6659672B2 (ja) * 2014-05-30 2020-03-04 ベリナタ ヘルス インコーポレイテッド 胎児染色体部分異数性およびコピー数変動の検出
US20150347676A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
US20180173846A1 (en) * 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2016014409A1 (en) * 2014-07-21 2016-01-28 Illumina, Inc. Polynucleotide enrichment using crispr-cas systems
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
WO2016019042A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP2016042836A (ja) * 2014-08-25 2016-04-04 富士フイルム株式会社 検査通知出力装置、検査通知出力方法、検査通知出力プログラム、及び遺伝子染色体検査システム
EP3204512B1 (en) 2014-10-10 2020-05-06 Sequenom, Inc. Methods for partitioning of genomic sequences
WO2016094853A1 (en) * 2014-12-12 2016-06-16 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9618474B2 (en) 2014-12-18 2017-04-11 Edico Genome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
EP3235010A4 (en) 2014-12-18 2018-08-29 Agilome, Inc. Chemically-sensitive field effect transistor
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
EP4450636A3 (en) 2015-05-18 2025-01-01 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
EP3118324A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. Method for analyzing copy number variation in the detection of cancer
BE1023267B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Werkwijze voor het analyseren van kopienummervariatie bij de detectie van kanker
BE1023266B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Systeem en methodologie voor de analyse van genomische gegevens die zijn verkregen van een onderwerp
CN108475296A (zh) 2015-08-25 2018-08-31 南托米克斯有限责任公司 用于对转移进行遗传分析的系统和方法
US10153894B2 (en) 2015-11-05 2018-12-11 Microsoft Technology Licensing, Llc Homomorphic encryption with optimized encoding
US10075289B2 (en) 2015-11-05 2018-09-11 Microsoft Technology Licensing, Llc Homomorphic encryption with optimized parameter selection
US9900147B2 (en) 2015-12-18 2018-02-20 Microsoft Technology Licensing, Llc Homomorphic encryption with optimized homomorphic operations
US10095831B2 (en) 2016-02-03 2018-10-09 Verinata Health, Inc. Using cell-free DNA fragment size to determine copy number variations
CN116987777A (zh) 2016-03-25 2023-11-03 凯锐思公司 合成核酸掺入物
CN109074429B (zh) * 2016-04-20 2022-03-29 华为技术有限公司 基因组变异检测方法、装置及终端
WO2017201081A1 (en) 2016-05-16 2017-11-23 Agilome, Inc. Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids
EP4043581A1 (en) 2016-05-27 2022-08-17 Sequenom, Inc. Method for generating a paralog assay system
US10296709B2 (en) 2016-06-10 2019-05-21 Microsoft Technology Licensing, Llc Privacy-preserving genomic prediction
EP3491560A1 (en) 2016-07-27 2019-06-05 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
WO2018064486A1 (en) 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018136881A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Sequencing adapter manufacture and use
CA3049457C (en) 2017-01-20 2023-05-16 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
EP3571615B1 (en) 2017-01-20 2024-01-24 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
CA3207879A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
CN106778069B (zh) * 2017-02-17 2020-02-14 广州精科医学检验所有限公司 确定胎儿染色体中微缺失微重复的方法及设备
EP3596233B1 (en) 2017-03-17 2022-05-18 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
EP3655954A1 (en) 2017-07-18 2020-05-27 Congenica Ltd. Screening system and method
GB2564847A (en) * 2017-07-18 2019-01-30 Congenica Ltd Knowledgebase for non-invasive prenatal genetic screening and diagnosis
US12024738B2 (en) 2018-04-14 2024-07-02 Natera, Inc. Methods for cancer detection and monitoring
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
WO2020104394A1 (en) 2018-11-19 2020-05-28 Sistemas Genómicos, S.L. Method and computer program product for analysis of fetal dna by massive sequencing
CA3118990A1 (en) 2018-11-21 2020-05-28 Karius, Inc. Direct-to-library methods, systems, and compositions
US11746385B2 (en) * 2019-05-21 2023-09-05 Lexent Bio, Inc. Methods of detecting tumor progression via analysis of cell-free nucleic acids
US20240395357A1 (en) 2019-10-31 2024-11-28 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
US11211147B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Estimation of circulating tumor fraction using off-target reads of targeted-panel sequencing
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding in a liquid biopsy assay
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation in a liquid biopsy assay
CN111753529B (zh) * 2020-06-03 2021-07-27 杭州云嘉云计算有限公司 一种基于拼音相同或相似的中文文本纠错方法
JP7719606B2 (ja) * 2021-01-15 2025-08-06 シスメックス株式会社 核酸分析方法および核酸分析装置
US11949638B1 (en) 2023-03-04 2024-04-02 Unanimous A. I., Inc. Methods and systems for hyperchat conversations among large networked populations with collective intelligence amplification
US12190294B2 (en) 2023-03-04 2025-01-07 Unanimous A. I., Inc. Methods and systems for hyperchat and hypervideo conversations across networked human populations with collective intelligence amplification

Family Cites Families (159)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4683195A (en) 1986-01-30 1987-07-28 Cetus Corporation Process for amplifying, detecting, and/or-cloning nucleic acid sequences
US4683202A (en) 1985-03-28 1987-07-28 Cetus Corporation Process for amplifying 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
US5091652A (en) 1990-01-12 1992-02-25 The Regents Of The University Of California Laser excited confocal microscope fluorescence scanner and method
DE69133566T2 (de) 1990-01-12 2007-12-06 Amgen Fremont Inc. Bildung von xenogenen Antikörpern
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
CA2157219C (en) 1994-08-31 2010-10-05 Munehiro Noda Process for purifying recombinant human serum albumin
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
CA2207952A1 (en) 1994-12-23 1996-07-04 David Thornley Automated dna sequencing
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
CA2253710A1 (en) 1996-04-25 1997-10-30 Spectrametrix Inc. Analyte assay using particulate labels
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
US5928870A (en) 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
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
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
EP1105529B2 (en) 1998-07-30 2013-05-29 Illumina Cambridge Limited 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
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
EP1218543A2 (en) 1999-09-29 2002-07-03 Solexa Ltd. Polynucleotide sequencing
DE60027040T2 (de) 1999-10-29 2006-11-23 Stratagene California, La Jolla Zusammensetzungen und methoden zur verwendung von dna polymerasen
US20010049102A1 (en) 2000-02-24 2001-12-06 Huang Xiaohua C. Methods for determining single nucleotide variations
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
AU2002239284A1 (en) 2000-11-27 2002-06-03 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
CA2440754A1 (en) 2001-03-12 2002-09-19 Stephen Quake Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension
WO2003000920A2 (en) 2001-06-21 2003-01-03 President And Fellows Of Harvard College Methods for characterization of 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
DE60310697D1 (de) 2002-03-15 2007-02-08 Epigenomics Ag Entdeckungs- und diagnoseverfahren mit 5-methylcytosin-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
CA2497988C (en) 2002-09-06 2011-03-29 The Trustees Of Boston University Quantification of gene expression
US7820378B2 (en) 2002-11-27 2010-10-26 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
WO2005010145A2 (en) 2003-07-05 2005-02-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
US7846738B2 (en) 2003-08-15 2010-12-07 President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
AU2004270220B2 (en) 2003-09-05 2009-03-05 The Chinese University Of Hong Kong 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
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
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
US7279337B2 (en) 2004-03-10 2007-10-09 Agilent Technologies, Inc. Method and apparatus for sequencing polymers through tunneling conductance variation detection
WO2006028508A2 (en) 2004-03-23 2006-03-16 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
EP1784754A4 (en) 2004-08-13 2009-05-27 Harvard College OPTI-NANOPORE DNA READING PLATFORM WITH ULTRAHOLE THROUGHPUT
AU2005308918B2 (en) 2004-11-29 2012-09-27 Sequenom, Inc. Means and methods for detecting methylated DNA
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
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
WO2007100911A2 (en) 2006-02-28 2007-09-07 University Of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
TW200741192A (en) 2006-03-10 2007-11-01 Koninkl Philips Electronics Nv Methods and systems for identification of DNA patterns through spectral analysis
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
WO2007140417A2 (en) 2006-05-31 2007-12-06 Sequenom, Inc. Methods and compositions for the extraction and amplification of nucleic acid from a sample
EP2029779A4 (en) 2006-06-14 2010-01-20 Living Microsystems Inc HIGHLY PARALLEL SNP GENOTYPING UTILIZATION FOR FETAL DIAGNOSIS
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
AU2007260750A1 (en) 2006-06-16 2007-12-21 Sequenom, Inc. Methods and compositions for the amplification, detection and quantification of nucleic acid from a sample
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
US8722327B2 (en) 2007-03-28 2014-05-13 Bionano Genomics, Inc. Methods of macromolecular analysis using nanochannel arrays
AU2008236694B2 (en) 2007-04-04 2014-01-23 The Regents Of The University Of California Compositions, devices, systems, and methods for using a nanopore
GB0713143D0 (en) 2007-07-06 2007-08-15 Ucl Business Plc Nucleic acid detection method
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
EP3892736A1 (en) 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
EP2195452B1 (en) 2007-08-29 2012-03-14 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
WO2009046445A1 (en) 2007-10-04 2009-04-09 Halcyon Molecular Sequencing nucleic acid polymers with electron microscopy
US7767400B2 (en) 2008-02-03 2010-08-03 Helicos Biosciences Corporation Paired-end reads in sequencing by synthesis
EP2271772B1 (en) 2008-03-11 2014-07-16 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
CA2718137A1 (en) 2008-03-26 2009-10-01 Sequenom, Inc. Restriction endonuclease enhanced polymorphic sequence detection
WO2011050147A1 (en) 2009-10-21 2011-04-28 Bionanomatrix, Inc . Methods and related devices for single molecule whole genome analysis
US8628919B2 (en) 2008-06-30 2014-01-14 Bionano Genomics, Inc. Methods and devices for single-molecule whole genome analysis
US9447152B2 (en) 2008-07-07 2016-09-20 Oxford Nanopore Technologies Limited Base-detecting pore
US20110229877A1 (en) 2008-07-07 2011-09-22 Oxford Nanopore Technologies Limited Enzyme-pore constructs
AU2009293232B2 (en) 2008-09-16 2015-05-14 Sequenom Center For Molecular Medicine Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
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
HUE031848T2 (en) * 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive diagnosis of fetal aneuploidy by sequencing
GB2483810B (en) 2008-11-07 2012-09-05 Sequenta Inc Methods for correlating clonotypes with diseases in a population
WO2010056728A1 (en) 2008-11-11 2010-05-20 Helicos Biosciences Corporation Nucleic acid encoding for multiplex analysis
JP5846703B2 (ja) 2008-11-18 2016-01-20 バイオナノ ジェノミックス、インク. ポリヌクレオチドのマッピング及び配列決定
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
CA2748030A1 (en) 2008-12-22 2010-07-01 Arnold R. Oliphant Methods and genotyping panels for detecting alleles, genomes, and transcriptomes
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
EP3211095B1 (en) 2009-04-03 2019-01-02 Sequenom, Inc. Nucleic acid preparation compositions and 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
US9725315B2 (en) 2009-09-28 2017-08-08 Bionano Genomics, Inc. Nanochannel arrays and near-field illumination devices for polymer analysis and related methods
HUE061110T2 (hu) 2009-11-05 2023-05-28 Univ Hong Kong Chinese Magzati genomelemzés anyai biológiai mintából
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
EP4074838A1 (en) 2010-01-19 2022-10-19 Verinata Health, Inc. Novel protocol for preparing sequencing libraries
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
EP2526415B1 (en) 2010-01-19 2017-05-03 Verinata Health, Inc Partition defined detection methods
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US10662474B2 (en) 2010-01-19 2020-05-26 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
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
CA3207599A1 (en) 2010-05-18 2011-11-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
WO2012006291A2 (en) 2010-07-06 2012-01-12 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
US8700338B2 (en) * 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
BR112013016193B1 (pt) 2010-12-22 2019-10-22 Natera Inc método ex vivo para determinar se um suposto pai é o pai biológico de um feto que está em gestação em uma gestante e relatório
EP2655666A2 (en) * 2010-12-23 2013-10-30 Sequenom, Inc. Fetal genetic variation detection
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
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
PL2716766T3 (pl) 2011-05-31 2017-09-29 Berry Genomics Co., Ltd. Urządzenie do wykrywania liczby kopii chromosomów płodowych lub chromosomów komórek nowotworowych
US20140235474A1 (en) * 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
KR101489568B1 (ko) 2011-06-29 2015-02-03 비지아이 헬스 서비스 코포레이션 리미티드 태아 유전학적 이상의 비침습성 검출
US9139874B2 (en) 2011-07-07 2015-09-22 Life Technologies Corporation Bi-directional sequencing compositions and methods
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of 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
US9984198B2 (en) 2011-10-06 2018-05-29 Sequenom, Inc. Reducing sequence read count error in assessment of complex 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
CA2850785C (en) * 2011-10-06 2022-12-13 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2766496T3 (en) 2011-10-11 2017-05-15 Sequenom Inc METHODS AND PROCESSES FOR NON-INVASIVE ASSESSMENT OF GENETIC VARIATIONS
US10214775B2 (en) * 2011-12-07 2019-02-26 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
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
EP3573066B1 (en) 2012-03-13 2023-09-27 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
ES2902401T3 (es) 2012-05-21 2022-03-28 Sequenom Inc Métodos y procesos para la evaluación no invasiva de variaciones genéticas
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
KR102393608B1 (ko) 2012-09-04 2022-05-03 가던트 헬쓰, 인크. 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법
US20140065621A1 (en) 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
AU2013326980B2 (en) 2012-10-04 2019-08-15 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
EP4187543A1 (en) 2013-04-03 2023-05-31 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3011051B1 (en) 2013-06-21 2019-01-30 Sequenom, Inc. Method for non-invasive assessment of genetic variations
US20150004601A1 (en) 2013-06-28 2015-01-01 Ariosa Diagnostics, Inc. Massively parallel sequencing of random dna fragments for determination of fetal fraction
WO2015026967A1 (en) 2013-08-20 2015-02-26 Natera, Inc. Methods of using low fetal fraction detection
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
BR112016007401B1 (pt) 2013-10-04 2023-04-11 Sequenom, Inc. Método para determinar a presença ou ausência de uma aneuploidia cromossômica em uma amostra
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
US20150347676A1 (en) 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
WO2016019042A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3378002A1 (en) 2015-11-16 2018-09-26 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

Also Published As

Publication number Publication date
JP2015513392A (ja) 2015-05-14
ES2929923T3 (es) 2022-12-02
EP2805280B1 (en) 2022-10-05
JP6431769B2 (ja) 2018-11-28
LT2805280T (lt) 2022-12-27
HUE059847T2 (hu) 2023-01-28
EP4148739A1 (en) 2023-03-15
US11697849B2 (en) 2023-07-11
EP2805280A1 (en) 2014-11-26
JP2017099406A (ja) 2017-06-08
HK1202672A1 (en) 2015-10-02
WO2013109981A1 (en) 2013-07-25
US20130150253A1 (en) 2013-06-13
AU2013209499A1 (en) 2014-08-14
CA2861856A1 (en) 2013-07-25
CA2861856C (en) 2020-06-02
AU2013209499B2 (en) 2018-05-10

Similar Documents

Publication Publication Date Title
LT2805280T (lt) Diagnostikos būdai, kurie atsižvelgia į eksperimentines sąlygas
IL254716A0 (en) Zinc-lysine conjugate
DK3327112T3 (en) Agse-deficient stamme
DK2830816T3 (en) Hidtil ukendt coatingkoncept
EP2934531A4 (en) COMBINATION
EP2935220A4 (en) PERI-carbinol
EP2874517A4 (en) SEAT LIFTING ARRANGEMENT
HUP1200607A2 (en) Diagnostic method
EP2911673A4 (en) COMBINATION
EP2905847A4 (en) TOGETHER
EP2920142A4 (en) MÉTHANOFULLERRÈNES
GB201211792D0 (en) Photocatalysts
GB201218341D0 (en) Diagnostic method
EP2925728A4 (en) COMBINATION
PL2631512T3 (pl) Pierścień uszczelniający
GB201304493D0 (en) Not published
EP2908815A4 (en) COMBINATION
EP2908816A4 (en) ASSOCIATION
GB201203966D0 (en) Secure exam
GB201216178D0 (en) Combination
AU345893S (en) Treehouse
GB201203045D0 (en) Chrismar
GB201202980D0 (en) Stop-love
GB201202979D0 (en) Ecotunnel
GB201202916D0 (en) E-Space