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

    • 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
    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • 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
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12Q—MEASURING 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • G16B40/00—ICT 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 (89)

* 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
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
US20140242588A1 (en) 2011-10-06 2014-08-28 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
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
PL2805280T3 (pl) 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
EP3401399B1 (en) 2012-03-02 2020-04-22 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10504613B2 (en) 2012-12-20 2019-12-10 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
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
WO2015130696A1 (en) 2014-02-25 2015-09-03 Bionano Genomics, Inc. Reduction of bias in genomic coverage measurements
US11060145B2 (en) 2013-03-13 2021-07-13 Sequenom, Inc. Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus
US10930368B2 (en) 2013-04-03 2021-02-23 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3578670B1 (en) 2013-05-24 2025-07-02 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102447079B1 (ko) 2013-06-21 2022-09-23 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
US20150073894A1 (en) * 2013-09-06 2015-03-12 Metamarkets Group Inc. Suspect Anomaly Detection and Presentation within Context
AU2014329493B2 (en) * 2013-10-04 2020-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3495496B1 (en) * 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
KR102373647B1 (ko) * 2013-10-21 2022-03-11 베리나타 헬스, 인코포레이티드 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법
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
EP3736344A1 (en) 2014-03-13 2020-11-11 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
US11269502B2 (en) 2014-03-26 2022-03-08 Unanimous A. I., Inc. Interactive behavioral polling and machine learning for amplification of group 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
CN113774132A (zh) 2014-04-21 2021-12-10 纳特拉公司 检测染色体片段中的突变和倍性
WO2015181718A1 (en) * 2014-05-26 2015-12-03 Ebios Futura S.R.L. Method of prenatal diagnosis
WO2015184404A1 (en) 2014-05-30 2015-12-03 Verinata Health, Inc. Detecting fetal sub-chromosomal aneuploidies and copy number variations
WO2015183872A1 (en) * 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
US20180173845A1 (en) * 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
CA3176503A1 (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
US20160034640A1 (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
JP6971845B2 (ja) 2014-10-10 2021-11-24 セクエノム， インコーポレイテッド 遺伝子の変動の非侵襲的評価のための方法および処理
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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
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
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
EP3235010A4 (en) 2014-12-18 2018-08-29 Agilome, Inc. Chemically-sensitive field effect transistor
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
US10075289B2 (en) 2015-11-05 2018-09-11 Microsoft Technology Licensing, Llc Homomorphic encryption with optimized parameter selection
US10153894B2 (en) 2015-11-05 2018-12-11 Microsoft Technology Licensing, Llc Homomorphic encryption with optimized encoding
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
WO2017165864A1 (en) 2016-03-25 2017-09-28 Karius, Inc. Synthetic nucleic acid spike-ins
WO2017181368A1 (zh) * 2016-04-20 2017-10-26 华为技术有限公司 基因组变异检测方法、装置及终端
US10811539B2 (en) 2016-05-16 2020-10-20 Nanomedical Diagnostics, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
EP3464626B1 (en) 2016-05-27 2022-04-06 Sequenom, Inc. Methods for detecting genetic variations
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
EP3491561A1 (en) 2016-07-27 2019-06-05 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
EP3518974A4 (en) * 2016-09-29 2020-05-27 Myriad Women's Health, Inc. NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION
CA3194557A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Sequencing adapter manufacture and use
EP3571614A1 (en) 2017-01-20 2019-11-27 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
EP4235676A3 (en) 2017-01-20 2023-10-18 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
EP3574424A1 (en) 2017-01-24 2019-12-04 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
EP3998350B1 (en) 2017-03-17 2025-05-07 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
WO2019016289A1 (en) 2017-07-18 2019-01-24 Congenica Ltd. SYSTEM AND METHOD FOR SCREENING
GB2564847A (en) * 2017-07-18 2019-01-30 Congenica Ltd Knowledgebase for non-invasive prenatal genetic screening and diagnosis
WO2019200228A1 (en) 2018-04-14 2019-10-17 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor dna
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
ES2937408T3 (es) 2018-11-19 2023-03-28 Sist Genomicos S L Método y producto informático de análisis de ADN fetal por secuenciación masiva
EP4428234A3 (en) 2018-11-21 2024-09-25 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
WO2021087491A1 (en) 2019-10-31 2021-05-06 Sequenom, Inc. Application of mosaicism ratio in multifetal gestations and personalized risk assessment
US11211144B2 (en) 2020-02-18 2021-12-28 Tempus Labs, Inc. Methods and systems for refining copy number variation 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
US11475981B2 (en) 2020-02-18 2022-10-18 Tempus Labs, Inc. Methods and systems for dynamic variant thresholding 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
EP1690935A3 (en) 1990-01-12 2008-07-30 Abgenix, Inc. Generation of xenogeneic antibodies
US5432054A (en) 1994-01-31 1995-07-11 Applied Imaging Method for separating rare cells from a population of cells
DE69532492T2 (de) 1994-08-31 2004-12-02 Mitsubishi Pharma Corp. Verfahren zur Reinigung von rekombinantem menschlichem Serumalbumin
US5846719A (en) 1994-10-13 1998-12-08 Lynx Therapeutics, Inc. Oligonucleotide tags for sorting and identification
DE69520290T2 (de) 1994-12-23 2001-10-31 Imperial College Of Science, Technology & Medicine Automatisches sequenzierungs verfahren
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
WO1997040181A1 (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
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
US5928870A (en) 1997-06-16 1999-07-27 Exact Laboratories, Inc. Methods for the detection of loss of heterozygosity
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
IL141148A0 (en) 1998-07-30 2002-02-10 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
US20050287592A1 (en) 2000-08-29 2005-12-29 Yeda Research And Development Co. Ltd. Template-dependent nucleic acid polymerization using oligonucleotide triphosphates building blocks
WO2001023610A2 (en) 1999-09-29 2001-04-05 Solexa Ltd. Polynucleotide sequencing
WO2001032887A1 (en) 1999-10-29 2001-05-10 Stratagene Compositions and methods utilizing dna polymerases
AU2001241733A1 (en) 2000-02-24 2001-09-03 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
AU2002318386A1 (en) 2001-06-21 2003-01-08 Agilent Technologies, Inc. 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
US7005264B2 (en) 2002-05-20 2006-02-28 Intel Corporation Method and apparatus for nucleic acid sequencing and identification
US20050019784A1 (en) 2002-05-20 2005-01-27 Xing Su 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
US8034567B2 (en) 2002-09-06 2011-10-11 Trustees Of Boston University Quantification of gene expression
CA2507189C (en) 2002-11-27 2018-06-12 Sequenom, Inc. Fragmentation-based methods and systems for sequence variation detection and discovery
CA2531105C (en) 2003-07-05 2015-03-17 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
DE60328193D1 (de) 2003-10-16 2009-08-13 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
US20100216153A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20100216151A1 (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
US7238485B2 (en) 2004-03-23 2007-07-03 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
CN102925549A (zh) 2004-08-13 2013-02-13 哈佛学院院长等 超高处理量光学-纳米孔dna读出平台
CA2589487C (en) 2004-11-29 2014-07-29 Klinikum Der Universitat Regensburg Means and methods for detecting methylated dna
CN101137760B (zh) 2005-03-18 2011-01-26 香港中文大学 检测染色体非整倍性的方法
US7960105B2 (en) 2005-11-29 2011-06-14 National Institutes Of Health Method of DNA analysis using micro/nanochannel
SI3002338T1 (sl) 2006-02-02 2019-11-29 Univ Leland Stanford Junior Neinvaziven genetski pregled zarodka z digitalno analizo
EP2351858B1 (en) 2006-02-28 2014-12-31 University of Louisville Research Foundation Detecting fetal chromosomal abnormalities using tandem single nucleotide polymorphisms
RU2466458C2 (ru) 2006-03-10 2012-11-10 Конинклейке Филипс Электроникс, Н.В. Способы и системы идентификации паттернов днк при помощи спектрального анализа
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
EP3260556B1 (en) 2006-05-31 2019-07-31 Sequenom, Inc. Methods for the extraction of nucleic acid from a sample
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
WO2007147063A2 (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
CA2964611C (en) 2007-03-28 2021-06-01 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
MX2010000846A (es) 2007-07-23 2010-04-21 Univ Hong Kong Chinese Diagnostico de aneuploide cromosomico fetal mediante el uso de secuenciacion genomica.
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
EP2195452B1 (en) 2007-08-29 2012-03-14 Sequenom, Inc. Methods and compositions for universal size-specific polymerase chain reaction
US20100331195A1 (en) 2007-10-04 2010-12-30 William Andregg 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
US8709726B2 (en) 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
WO2010002883A2 (en) 2008-06-30 2010-01-07 Bionanomatrix, Inc. Methods and devices for single-molecule whole genome analysis
CN103695530B (zh) 2008-07-07 2016-05-25 牛津纳米孔技术有限公司 酶-孔构建体
CN102144037A (zh) 2008-07-07 2011-08-03 牛津纳米孔技术有限公司 检测碱基的孔
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
CA3209502A1 (en) 2008-09-16 2010-03-25 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
LT2334812T (lt) 2008-09-20 2017-04-25 The Board Of Trustees Of The Leland Stanford Junior University Neinvazinis fetalinės aneuploidijos diagnozavimas sekvenavimu
CA2742380C (en) 2008-11-07 2018-05-29 Sequenta, Inc. Methods of monitoring conditions by sequence analysis
US20110301042A1 (en) 2008-11-11 2011-12-08 Helicos Biosciences Corporation Methods of sample encoding for multiplex analysis of samples by single molecule sequencing
AU2009316628B2 (en) 2008-11-18 2016-06-16 Bionano Genomics, Inc. Polynucleotide mapping and sequencing
WO2010065470A2 (en) 2008-12-01 2010-06-10 Consumer Genetics, Inc. Compositions and methods for detecting background male dna during fetal sex determination
CN102325901A (zh) 2008-12-22 2012-01-18 赛卢拉有限公司 检测等位基因、基因组和转录物组的方法和基因型分析谱
US8455260B2 (en) 2009-03-27 2013-06-04 Massachusetts Institute Of Technology Tagged-fragment map assembly
WO2010115016A2 (en) 2009-04-03 2010-10-07 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
CN102666946B (zh) 2009-09-28 2017-09-05 生物纳米基因组公司 用于聚合物分析的纳米通道阵列和近场照射装置以及相关方法
AU2010310638A1 (en) 2009-10-21 2012-05-03 Bionano Genomics, Inc. Methods and related devices for single molecule whole genome analysis
CN105779280B (zh) 2009-11-05 2018-09-25 香港中文大学 由母本生物样品进行胎儿基因组的分析
EP2516680B1 (en) 2009-12-22 2016-04-06 Sequenom, Inc. Processes and kits for identifying aneuploidy
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
CA2786564A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing
CA2785718C (en) 2010-01-19 2017-04-04 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
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
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
AU2011207561B2 (en) 2010-01-19 2014-02-20 Verinata Health, Inc. Partition defined detection methods
US20110312503A1 (en) 2010-01-23 2011-12-22 Artemis Health, Inc. Methods of fetal abnormality detection
SG185544A1 (en) 2010-05-14 2012-12-28 Fluidigm Corp Nucleic acid isolation methods
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US20120046877A1 (en) 2010-07-06 2012-02-23 Life Technologies Corporation Systems and methods to detect copy number variation
US20120021919A1 (en) 2010-07-23 2012-01-26 Thomas Scholl 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
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
CA2822439A1 (en) 2010-12-23 2012-06-28 Sequenom, Inc. Fetal genetic variation detection
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
EP2673729B1 (en) 2011-02-09 2018-10-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
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
JP5926795B2 (ja) 2011-05-31 2016-05-25 ベリー ジェノミクス カンパニー リミテッドＢｅｒｒｙ Ｇｅｎｏｍｉｃｓ Ｃｏ．， Ｌｔｄ． 胎芽又は腫瘍染色体のコピー数を検出するシステム及び装置
WO2012177792A2 (en) 2011-06-24 2012-12-27 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
WO2013019361A1 (en) 2011-07-07 2013-02-07 Life Technologies Corporation Sequencing methods
US10424394B2 (en) 2011-10-06 2019-09-24 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
US9367663B2 (en) 2011-10-06 2016-06-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2764459B1 (en) 2011-10-06 2021-06-30 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
US20140242588A1 (en) * 2011-10-06 2014-08-28 Sequenom, Inc Methods and processes for non-invasive assessment of genetic variations
EP2766496B1 (en) 2011-10-11 2017-03-08 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
WO2013086352A1 (en) * 2011-12-07 2013-06-13 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
PL2805280T3 (pl) * 2012-01-20 2022-11-21 Sequenom, Inc. Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
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
JP6411995B2 (ja) 2012-03-13 2018-10-24 ザ チャイニーズ ユニバーシティー オブ ホンコン 非侵襲的出生前診断のために大量並列シークエンシング・データを分析する方法
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2852680T3 (da) 2012-05-21 2020-03-16 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv evaluering af genetiske variationer
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20140065621A1 (en) 2012-09-04 2014-03-06 Natera, Inc. Methods for increasing fetal fraction in maternal blood
DE202013012824U1 (de) 2012-09-04 2020-03-10 Guardant Health, Inc. Systeme zum Erfassen von seltenen Mutationen und einer Kopienzahlvariation
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP2904534B1 (en) 2012-10-04 2021-12-15 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
EP3578670B1 (en) 2013-05-24 2025-07-02 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
KR102447079B1 (ko) 2013-06-21 2022-09-23 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
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
AU2014329493B2 (en) 2013-10-04 2020-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3495496B1 (en) 2013-10-07 2020-11-25 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
WO2015183872A1 (en) 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
US20160034640A1 (en) 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US20180327844A1 (en) 2015-11-16 2018-11-15 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

Also Published As

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

Similar Documents

Publication Publication Date Title
PL2805280T3 (pl) Procesy diagnostyczne będące czynnikiem warunków doświadczalnych
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
HK40089488A (en) Diagnostic processes that factor experimental conditions
EP2925728A4 (en) COMBINATION
PL2631512T3 (pl) Pierścień uszczelniający
GB201304493D0 (en) Not published
EP2908816A4 (en) ASSOCIATION
EP2908815A4 (en) COMBINATION
GB201203966D0 (en) Secure exam
GB201216178D0 (en) Combination
AU345893S (en) Treehouse
GB201202887D0 (en) TV-audio
GB201202916D0 (en) E-Space
GB201202979D0 (en) Ecotunnel