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
US9367663B2 (en) 2011-10-06 2016-06-14 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
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
CA2850785C (en) 2011-10-06 2022-12-13 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6431769B2 (ja) 2012-01-20 2018-11-28 セクエノム， インコーポレイテッド 実験条件を要因として含める診断プロセス
EP4155401A1 (en) 2012-03-02 2023-03-29 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
WO2014130589A1 (en) 2013-02-20 2014-08-28 Bionano Genomics, Inc. Characterization of molecules in nanofluidics
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
HUE061261T2 (hu) 2013-04-03 2023-05-28 Sequenom Inc Eljárások és folyamatok genetikai variánsok nem invazív értékelésére
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
IL283586B2 (en) 2013-06-21 2023-11-01 Sequenom Inc Methods and processes 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
JP6525434B2 (ja) 2013-10-04 2019-06-05 セクエノム， インコーポレイテッド 遺伝子の変異の非侵襲的な評価のための方法および処理
EP3851539A1 (en) * 2013-10-07 2021-07-21 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
KR102429186B1 (ko) * 2013-10-21 2022-08-03 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
US11365447B2 (en) 2014-03-13 2022-06-21 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
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
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
JP6659575B2 (ja) 2014-04-21 2020-03-04 ナテラ， インコーポレイテッド 変異の検出および染色体分節の倍数性
EP3149202A1 (en) * 2014-05-26 2017-04-05 Ebios Futura S.r.l. Method of prenatal diagnosis
CN106795558B (zh) * 2014-05-30 2020-07-10 维里纳塔健康公司 检测胎儿亚染色体非整倍性和拷贝数变异
EP3149640B1 (en) * 2014-05-30 2019-09-04 Sequenom, Inc. Chromosome representation determinations
US20180173845A1 (en) * 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
SG11201702066UA (en) * 2014-07-21 2017-04-27 Illumina Inc Polynucleotide enrichment using crispr-cas systems
US20160026759A1 (en) * 2014-07-22 2016-01-28 Yourgene Bioscience Detecting Chromosomal Aneuploidy
EP3760739B1 (en) 2014-07-30 2025-09-03 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
AU2015330734B2 (en) 2014-10-10 2021-10-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3567120B1 (en) * 2014-12-12 2020-08-19 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
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
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9857328B2 (en) 2014-12-18 2018-01-02 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
WO2016187234A1 (en) 2015-05-18 2016-11-24 Karius, Inc. Compositions and methods for enriching populations of nucleic acids
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
BE1023267B1 (nl) * 2015-07-13 2017-01-17 Cartagenia N.V. Werkwijze voor het analyseren van kopienummervariatie bij de detectie van kanker
EP3118324A1 (en) * 2015-07-13 2017-01-18 Cartagenia N.V. Method for analyzing copy number variation in the detection of cancer
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
BR112018069557A2 (pt) 2016-03-25 2019-01-29 Karius Inc spike-ins de ácido nucléico sintético
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
WO2017205826A1 (en) 2016-05-27 2017-11-30 Sequenom, Inc. Methods for detecting genetic variations
US10296709B2 (en) 2016-06-10 2019-05-21 Microsoft Technology Licensing, Llc Privacy-preserving genomic prediction
WO2018022906A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
WO2018022890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
US11854666B2 (en) 2016-09-29 2023-12-26 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
CA3049682C (en) 2017-01-20 2023-06-27 Sequenom, Inc. Methods for non-invasive assessment of genetic alterations
EP3571317A1 (en) 2017-01-20 2019-11-27 Sequenom, Inc. Sequencing adapter manufacture and use
CA3194621A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
US11694768B2 (en) 2017-01-24 2023-07-04 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
IL317916A (en) 2017-03-17 2025-02-01 Sequenom Inc Methods and processes for assessing genetic mosaicism
US11342047B2 (en) 2017-04-21 2022-05-24 Illumina, Inc. Using cell-free DNA fragment size to detect tumor-associated variant
GB2564847A (en) * 2017-07-18 2019-01-30 Congenica Ltd Knowledgebase for non-invasive prenatal genetic screening and diagnosis
EP3655954A1 (en) 2017-07-18 2020-05-27 Congenica Ltd. Screening system and method
JP7573443B2 (ja) 2018-04-14 2024-10-25 ナテラ， インコーポレイテッド 循環腫瘍ｄｎａの個別化された検出を用いる癌検出およびモニタリングの方法
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
EP3884502B1 (en) 2018-11-19 2022-11-09 Sistemas Genómicos, S.L. Method and computer program product for analysis of fetal dna by massive sequencing
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
JP2022553829A (ja) 2019-10-31 2022-12-26 セクエノム， インコーポレイテッド 多胎児妊娠およびパーソナライズされたリスク評価におけるモザイク現象比の適用
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
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
ATE139258T1 (de) 1990-01-12 1996-06-15 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
EP0699687B1 (en) 1994-08-31 2004-01-28 Mitsubishi Pharma Corporation 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
BR9710836A (pt) 1996-04-25 2000-10-24 Spectrametrix Inc Ensaio de analitos usando marcas em partìculas
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
DE69928265T3 (de) 1998-07-30 2013-11-28 Illumina Cambridge Ltd. Matrizen von biomolekülen und ihre verwendung in sequenzierung
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
ATE321867T1 (de) 1999-10-29 2006-04-15 Stratagene California Zusammensetzungen und methoden zur verwendung von dna polymerasen
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
US6936433B2 (en) 2000-11-27 2005-08-30 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
WO2002072892A1 (en) 2001-03-12 2002-09-19 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences by asynchronous base extension
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
AU2003220291A1 (en) 2002-03-15 2003-09-29 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
JP4683922B2 (ja) 2002-09-06 2011-05-18 トラスティーズ オブ ボストン ユニバーシティ 遺伝子発現の定量方法
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
EP2354253A3 (en) 2003-09-05 2011-11-16 Trustees of Boston University Method for non-invasive prenatal diagnosis
EP1524321B2 (en) 2003-10-16 2014-07-23 Sequenom, Inc. Non-invasive detection of fetal genetic traits
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
WO2006028508A2 (en) 2004-03-23 2006-03-16 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
CN101103357B (zh) 2004-08-13 2012-10-03 哈佛学院院长等 超高处理量光学-纳米孔dna读出平台
CN101243191B (zh) 2004-11-29 2014-04-16 塞昆纳姆股份有限公司 用于检测甲基化dna的手段和方法
AU2006224971B2 (en) 2005-03-18 2009-07-02 Boston University A 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
ES2429408T5 (es) 2006-02-02 2020-01-16 Univ Leland Stanford Junior Examen genético fetal no invasivo mediante análisis digital
CA2647793C (en) 2006-02-28 2016-07-05 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
US20090075252A1 (en) 2006-04-14 2009-03-19 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US7282337B1 (en) 2006-04-14 2007-10-16 Helicos Biosciences Corporation Methods for increasing accuracy of nucleic acid sequencing
US8679741B2 (en) 2006-05-31 2014-03-25 Sequenom, Inc. Methods and compositions 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
US20080070792A1 (en) 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
CN101501251A (zh) 2006-06-16 2009-08-05 塞昆纳姆股份有限公司 扩增、检测和定量样品中核酸的方法和组合物
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
CA2682275C (en) 2007-03-28 2017-05-09 Bionanomatrix, 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
CA3127930A1 (en) 2007-07-23 2009-01-29 The Chinese Unversity Of Hongkong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
ATE549419T1 (de) 2007-08-29 2012-03-15 Sequenom Inc Verfahren und zusammensetzungen für die universelle grössenspezifische polymerasekettenreaktion
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
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
AU2009223671B2 (en) 2008-03-11 2014-11-27 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
CA2729159C (en) 2008-06-30 2020-01-14 Bionanomatrix, 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
WO2010004265A1 (en) 2008-07-07 2010-01-14 Oxford Nanopore Technologies Limited Enzyme-pore constructs
CA3073079C (en) 2008-09-16 2023-09-26 Sequenom, Inc. 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
EP2562268B1 (en) 2008-09-20 2016-12-21 The Board of Trustees of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
SG195652A1 (en) 2008-11-07 2013-12-30 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
EP2370594B1 (en) 2008-11-18 2014-01-08 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
WO2010075459A1 (en) 2008-12-22 2010-07-01 Celula, Inc. 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
EP2414545B1 (en) 2009-04-03 2017-01-11 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
MX355132B (es) 2009-11-05 2018-04-06 Sequenom Inc Analisis genomico fetal de muestra biologica materna.
EP3088532B1 (en) 2009-12-22 2019-10-30 Sequenom, Inc. Processes and kits for identifying aneuploidy
AU2011207544A1 (en) 2010-01-19 2012-09-06 Verinata Health, Inc. Identification of polymorphic sequences in mixtures of genomic DNA by whole genome sequencing
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
GB2485644B (en) 2010-01-19 2012-11-21 Verinata Health Inc Improved identification of chromosomal aneuploidies using a normalising sequence
WO2011091063A1 (en) 2010-01-19 2011-07-28 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
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
EP2569453B1 (en) 2010-05-14 2015-12-16 Fluidigm Corporation Nucleic acid isolation methods
EP2854058A3 (en) 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling
WO2012006291A2 (en) 2010-07-06 2012-01-12 Life Technologies Corporation Systems and methods to detect copy number variation
JP2013530727A (ja) 2010-07-23 2013-08-01 エソテリックス ジェネティック ラボラトリーズ， エルエルシー 差次的に提示される胎児のゲノム領域もしくは母親のゲノム領域の同定およびそれらの使用
US8700338B2 (en) * 2011-01-25 2014-04-15 Ariosa Diagnosis, Inc. Risk calculation for evaluation of fetal aneuploidy
RU2620959C2 (ru) 2010-12-22 2017-05-30 Натера, Инк. Способы неинвазивного пренатального установления отцовства
CN103384725A (zh) * 2010-12-23 2013-11-06 塞昆纳姆股份有限公司 胎儿遗传变异的检测
WO2012103031A2 (en) 2011-01-25 2012-08-02 Ariosa Diagnostics, Inc. Detection of genetic abnormalities
CA2824387C (en) 2011-02-09 2019-09-24 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
DK2716766T3 (da) 2011-05-31 2017-01-02 Berry Genomics Co Ltd Indretning til detektering af kopiantal af føtale kromosomer eller tumorcellekromosomer
WO2012177792A2 (en) 2011-06-24 2012-12-27 Sequenom, Inc. Methods and processes for non-invasive assessment of a genetic variation
ES2512448T3 (es) 2011-06-29 2014-10-24 Bgi Diagnosis Co., Ltd. Detección no invasiva de anormalidades genéticas fetales
US9139874B2 (en) 2011-07-07 2015-09-22 Life Technologies Corporation Bi-directional sequencing compositions and methods
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
WO2013052913A2 (en) 2011-10-06 2013-04-11 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2850785C (en) * 2011-10-06 2022-12-13 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
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
WO2013055817A1 (en) 2011-10-11 2013-04-18 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
US10214775B2 (en) * 2011-12-07 2019-02-26 Chronix Biomedical Prostate cancer associated circulating nucleic acid biomarkers
JP6431769B2 (ja) * 2012-01-20 2018-11-28 セクエノム， インコーポレイテッド 実験条件を要因として含める診断プロセス
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
CA2874195C (en) 2012-05-21 2020-08-25 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
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK2893040T5 (en) 2012-09-04 2019-03-18 Guardant Health Inc METHODS TO DETECT RARE MUTATIONS AND CAPITAL VARIATION
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
HUE061261T2 (hu) 2013-04-03 2023-05-28 Sequenom Inc Eljárások és folyamatok genetikai variánsok nem invazív értékelésére
WO2014190286A2 (en) 2013-05-24 2014-11-27 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
IL283586B2 (en) 2013-06-21 2023-11-01 Sequenom Inc Methods and processes 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
JP6525434B2 (ja) 2013-10-04 2019-06-05 セクエノム， インコーポレイテッド 遺伝子の変異の非侵襲的な評価のための方法および処理
EP3851539A1 (en) 2013-10-07 2021-07-21 Sequenom, Inc. Methods and processes for non-invasive assessment of chromosome alterations
EP3149640B1 (en) 2014-05-30 2019-09-04 Sequenom, Inc. Chromosome representation determinations
EP3760739B1 (en) 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA3002449A1 (en) 2015-11-16 2017-05-26 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

Also Published As

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

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
GB201211792D0 (en) Photocatalysts
EP2920142A4 (en) MÉTHANOFULLERRÈNES
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
GB201202980D0 (en) Stop-love
GB201202887D0 (en) TV-audio
GB201202916D0 (en) E-Space