HK1207399A1 - 無創評估遺傳變異的方法和流程 - Google Patents

無創評估遺傳變異的方法和流程

Info

Publication number
HK1207399A1
HK1207399A1 HK15107831.1A HK15107831A HK1207399A1 HK 1207399 A1 HK1207399 A1 HK 1207399A1 HK 15107831 A HK15107831 A HK 15107831A HK 1207399 A1 HK1207399 A1 HK 1207399A1
Authority
HK
Hong Kong
Prior art keywords
processes
methods
genetic variations
invasive assessment
invasive
Prior art date
Application number
HK15107831.1A
Other languages
English (en)
Inventor
Amin Mazloom
Zelijko Dzakula
Cosmin Deciu
Original Assignee
Sequenom Inc
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Sequenom Inc filed Critical Sequenom Inc
Publication of HK1207399A1 publication Critical patent/HK1207399A1/zh

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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
    • G16B20/10—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
    • C12Q1/6869—Methods for sequencing
    • 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
    • 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
    • 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
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/101—Reactions characterised by their quantitative nature the purpose being quantitative analysis with an internal standard/control
    • 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
    • C12Q2545/00—Reactions characterised by their quantitative nature
    • C12Q2545/10—Reactions characterised by their quantitative nature the purpose being quantitative analysis
    • C12Q2545/114—Reactions characterised by their quantitative nature the purpose being quantitative analysis involving a quantitation step

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Databases & Information Systems (AREA)
  • Artificial Intelligence (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Data Mining & Analysis (AREA)
  • Pathology (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
HK15107831.1A 2012-10-04 2015-08-13 無創評估遺傳變異的方法和流程 HK1207399A1 (zh)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201261709901P 2012-10-04 2012-10-04
US13/781,530 US10482994B2 (en) 2012-10-04 2013-02-28 Methods and processes for non-invasive assessment of genetic variations
PCT/US2013/063287 WO2014055774A1 (en) 2012-10-04 2013-10-03 Methods and processes for non-invasive assessment of genetic variations

Publications (1)

Publication Number Publication Date
HK1207399A1 true HK1207399A1 (zh) 2016-01-29

Family

ID=50433354

Family Applications (1)

Application Number Title Priority Date Filing Date
HK15107831.1A HK1207399A1 (zh) 2012-10-04 2015-08-13 無創評估遺傳變異的方法和流程

Country Status (6)

Country Link
US (2) US10482994B2 (zh)
EP (2) EP2904112B1 (zh)
AU (1) AU2013327058B2 (zh)
CA (1) CA2885372C (zh)
HK (1) HK1207399A1 (zh)
WO (1) WO2014055774A1 (zh)

Families Citing this family (53)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20140235474A1 (en) 2011-06-24 2014-08-21 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
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
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
CA2861856C (en) 2012-01-20 2020-06-02 Sequenom, Inc. Diagnostic processes that factor experimental conditions
US9920361B2 (en) 2012-05-21 2018-03-20 Sequenom, Inc. Methods and compositions for analyzing nucleic acid
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10497461B2 (en) 2012-06-22 2019-12-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3561072A1 (en) 2012-12-10 2019-10-30 Resolution Bioscience, Inc. Methods for targeted genomic analysis
US20130309666A1 (en) 2013-01-25 2013-11-21 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
FI2981921T3 (fi) 2013-04-03 2023-03-09 Sequenom Inc Menetelmiä ja prosesseja geneettisten variaatioiden ei-invasiiviseen arviointiin
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
HUE042654T2 (hu) 2013-06-21 2019-07-29 Sequenom Inc Eljárás genetikai variációk nem-invazív megállapítására
US9116866B2 (en) * 2013-08-21 2015-08-25 Seven Bridges Genomics Inc. Methods and systems for detecting sequence variants
MY181069A (en) 2013-10-04 2020-12-17 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
CN111863131A (zh) 2013-10-07 2020-10-30 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
WO2015138774A1 (en) 2014-03-13 2015-09-17 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3760739A1 (en) 2014-07-30 2021-01-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3730629A1 (en) 2014-10-10 2020-10-28 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3018213A1 (en) * 2014-11-04 2016-05-11 Genesupport SA Method for determining the presence of a biological condition by determining total and relative amounts of two different 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
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, 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
CA2971589C (en) 2014-12-18 2021-09-28 Edico Genome Corporation Chemically-sensitive field effect transistor
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
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
EP3293270B1 (en) * 2015-05-06 2019-09-25 Zhejiang Annoroad Bio-Technology Co., Ltd. Reagent kit, apparatus, and method for detecting chromosome aneuploidy
CN104830986B (zh) * 2015-05-07 2018-08-03 深圳承启生物科技有限公司 一种检测胎儿基因信息的方法、装置和系统
US10395759B2 (en) 2015-05-18 2019-08-27 Regeneron Pharmaceuticals, Inc. Methods and systems for copy number variant detection
SG11201707649SA (en) * 2015-06-24 2017-10-30 Samsung Life Public Welfare Foundation Method and device for analyzing gene
ES2856598T3 (es) 2015-11-11 2021-09-27 Resolution Bioscience Inc Construcción de alta eficiencia de bibliotecas de ADN
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
CA3030890A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Genetic copy number alteration classifications
CA3030894A1 (en) 2016-07-27 2018-02-01 Sequenom, Inc. Methods for non-invasive assessment of genomic instability
RU2019108294A (ru) * 2016-08-25 2020-09-25 Резолюшн Байосайенс, Инк. Способы обнаружения изменений количества геномных копий в образцах днк
US11929145B2 (en) 2017-01-20 2024-03-12 Sequenom, Inc Methods for non-invasive assessment of genetic alterations
WO2018136882A1 (en) 2017-01-20 2018-07-26 Sequenom, Inc. Methods for non-invasive assessment of copy number alterations
EP3571317A1 (en) 2017-01-20 2019-11-27 Sequenom, Inc. Sequencing adapter manufacture and use
WO2018140521A1 (en) 2017-01-24 2018-08-02 Sequenom, Inc. Methods and processes for assessment of genetic variations
JP7370862B2 (ja) 2017-03-17 2023-10-30 セクエノム， インコーポレイテッド 遺伝子モザイク症のための方法およびプロセス
SG10202111266VA (en) 2017-04-19 2021-11-29 Singlera Genomics Inc Compositions and methods for library construction and sequence analysis
CA3060553A1 (en) * 2017-04-19 2018-10-25 Singlera Genomics, Inc. Compositions and methods for detection of genomic variance and dna methylation status
CN109192246B (zh) * 2018-06-22 2020-10-16 深圳市达仁基因科技有限公司 检测染色体拷贝数异常的方法、装置和存储介质
US10862512B2 (en) 2018-09-20 2020-12-08 Western Digital Technologies, Inc. Data driven ICAD graph generation
US10735031B2 (en) * 2018-09-20 2020-08-04 Western Digital Technologies, Inc. Content aware decoding method and system
US10691372B1 (en) * 2018-12-07 2020-06-23 Western Digital Technologies, Inc. Transistor threshold voltage maintenance in 3D memory
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
CN116157869A (zh) 2020-12-02 2023-05-23 伊鲁米纳软件公司 用于检测遗传改变的系统和方法
WO2023181370A1 (ja) * 2022-03-25 2023-09-28 国立大学法人 東京大学 情報処理装置、情報処理方法、及び情報処理プログラム

Family Cites Families (158)

* 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
SG48759A1 (en) 1990-01-12 2002-07-23 Abgenix Inc Generation of xenogenic antibodies
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
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
EP0799320B1 (en) 1994-12-23 2001-03-07 Imperial College Of Science, Technology & Medicine 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
IL126544A (en) 1996-04-25 2004-08-31 Genicon Sciences Inc Test for component detection using detectable particles in diffused light
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
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
US6100029A (en) 1996-08-14 2000-08-08 Exact Laboratories, Inc. Methods for the detection of chromosomal aberrations
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
JP2002521064A (ja) 1998-07-30 2002-07-16 ソレックサ リミテッド アレイ生体分子およびシークエンシングにおけるその使用
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
JP4949585B2 (ja) 1999-10-29 2012-06-13 アジレント・テクノロジーズ・インク Ｄｎａポリメラーゼを使用した組成物および方法
WO2001062952A1 (en) 2000-02-24 2001-08-30 Dna Sciences, Inc. Methods for determining single nucleotide variations
US6664056B2 (en) 2000-10-17 2003-12-16 The Chinese University Of Hong Kong Non-invasive prenatal monitoring
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
US7297518B2 (en) 2001-03-12 2007-11-20 California Institute Of Technology 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
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
CN102344960B (zh) 2002-09-06 2014-06-18 波士顿大学信托人 基因表达的定量
CN1774511B (zh) 2002-11-27 2013-08-21 斯昆诺有限公司 用于序列变异检测和发现的基于断裂的方法和系统
WO2005010145A2 (en) 2003-07-05 2005-02-03 The Johns Hopkins University Method and compositions for detection and enumeration of genetic variations
WO2005017025A2 (en) 2003-08-15 2005-02-24 The President And Fellows Of Harvard College Study of polymer molecules and conformations with a nanopore
EP1664077B1 (en) 2003-09-05 2016-04-13 Trustees of Boston University 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
US20100216151A1 (en) 2004-02-27 2010-08-26 Helicos Biosciences Corporation Methods for detecting fetal nucleic acids and diagnosing fetal abnormalities
US20060046258A1 (en) 2004-02-27 2006-03-02 Lapidus Stanley N Applications of single molecule sequencing
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
ATE443161T1 (de) 2004-11-29 2009-10-15 Univ Regensburg Klinikum Mittel und verfahren für den nachweis von methylierter dna
ES2398233T3 (es) 2005-03-18 2013-03-14 The Chinese University Of Hong Kong Un método para la detección de aneuploidías cromosómicas
WO2007065025A2 (en) 2005-11-29 2007-06-07 Wisconsin Alumni Research Foundation Method of dna analysis using micro/nanochannel
PT3002338T (pt) 2006-02-02 2019-08-02 Univ Leland Stanford Junior Triagem genética não invasiva de fetos por análise digital
ATE508209T1 (de) 2006-02-28 2011-05-15 Univ Louisville Res Found Erkennung von chromosomabnormalitäten im fötus mit hilfe der tandem-einzelnukleotid- polymorphismen
WO2007105150A2 (en) 2006-03-10 2007-09-20 Koninklijke Philips Electronics, N.V. Methods and systems for identification of dna patterns through spectral analysis
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
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
JP2009540802A (ja) 2006-06-16 2009-11-26 セクエノム， インコーポレイテッド サンプルからの核酸を増幅、検出および定量するための方法および組成物
US20080081330A1 (en) 2006-09-28 2008-04-03 Helicos Biosciences Corporation Method and devices for analyzing small RNA molecules
US8262900B2 (en) 2006-12-14 2012-09-11 Life Technologies Corporation Methods and apparatus for measuring analytes using large scale FET arrays
EP1944273A1 (en) 2007-01-15 2008-07-16 Rockwool International A/S Process and apparatus for making mineral fibers
US8003319B2 (en) 2007-02-02 2011-08-23 International Business Machines Corporation Systems and methods for controlling position of charged polymer inside nanopore
EP2610008A1 (en) 2007-03-28 2013-07-03 BioNano Genomics, Inc. Methods of macromolecular analysis using nanochannel arrays
WO2008124107A1 (en) 2007-04-04 2008-10-16 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
US9218449B2 (en) 2007-07-23 2015-12-22 The Chinese University Of Hong Kong Methods for analyzing massively parallel sequencing data for noninvasive prenatal diagnosis
SI2183693T2 (sl) 2007-07-23 2019-02-28 The Chinese University Of Hong Kong Technology Licenising Office Diagnosticiranje fetalne kromosomske anevploidije z uporabo genomskega sekvenciranja
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
WO2009032779A2 (en) 2007-08-29 2009-03-12 Sequenom, Inc. Methods and compositions for the size-specific seperation of nucleic acid from a sample
ATE549419T1 (de) 2007-08-29 2012-03-15 Sequenom Inc Verfahren und zusammensetzungen für die universelle grössenspezifische polymerasekettenreaktion
AU2008308457A1 (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
EP2276858A4 (en) 2008-03-26 2011-10-05 Sequenom Inc RESTRICTED ENDONUCLEASE AMPLIFIED POLYMORPHIC SEQUENCE DETECTION
KR20110025993A (ko) 2008-06-30 2011-03-14 바이오나노매트릭스, 인크. 단일-분자 전체 게놈 분석용 장치 및 방법
JP2011527191A (ja) 2008-07-07 2011-10-27 オックスフォード ナノポア テクノロジーズ リミテッド 塩基検出細孔
WO2010004265A1 (en) 2008-07-07 2010-01-14 Oxford Nanopore Technologies Limited Enzyme-pore constructs
JP5727375B2 (ja) 2008-09-16 2015-06-03 セクエノム， インコーポレイテッド 非侵襲性の出生前診断のために有用な、母体サンプル由来の胎児核酸のメチル化に基づく濃縮のためのプロセスおよび組成物
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
EP3378951B1 (en) 2008-09-20 2020-05-13 The Board of Trustees of the Leland Stanford Junior University Noninvasive diagnosis of aneuploidy by sequencing
ES2453066T3 (es) 2008-11-07 2014-04-03 Sequenta, Inc. Métodos para supervisar las condiciones por análisis de secuencia
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
SG10201501804WA (en) 2008-12-22 2015-05-28 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
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
JP2013507964A (ja) 2009-10-21 2013-03-07 バイオナノ ジェノミックス、インク． 単一分子全ゲノム解析のための方法及び関連装置
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
EA034241B1 (ru) 2009-11-06 2020-01-21 Те Чайниз Юниверсити Ов Гонконг Способ пренатальной диагностики дисбаланса последовательности
DK2516680T3 (en) 2009-12-22 2016-05-02 Sequenom Inc Method and kits to identify aneuploidy
WO2011090556A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid 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
CA2786564A1 (en) 2010-01-19 2011-07-28 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
US20120270739A1 (en) 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
EP2848704B1 (en) 2010-01-19 2018-08-29 Verinata Health, Inc Sequencing methods for prenatal diagnoses
US9260745B2 (en) 2010-01-19 2016-02-16 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
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
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
EP2656263B1 (en) 2010-12-22 2019-11-06 Natera, Inc. Methods for non-invasive prenatal paternity testing
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
WO2012093331A1 (en) 2011-01-05 2012-07-12 The Chinese University Of Hong Kong Noninvasive prenatal genotyping of fetal sex chromosomes
US20120190021A1 (en) 2011-01-25 2012-07-26 Aria Diagnostics, Inc. Detection of genetic abnormalities
WO2012108920A1 (en) 2011-02-09 2012-08-16 Natera, Inc Methods for non-invasive prenatal ploidy calling
US10900080B2 (en) 2011-02-24 2021-01-26 The Chinese University Of Hong Kong Molecular testing of multiple pregnancies
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
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
WO2012162884A1 (zh) 2011-05-31 2012-12-06 北京贝瑞和康生物技术有限公司 检测胚胎或肿瘤染色体拷贝数的试剂盒、装置和方法
US20140235474A1 (en) 2011-06-24 2014-08-21 Sequenom, Inc. Methods and processes for non invasive assessment of a genetic variation
JP5659319B2 (ja) 2011-06-29 2015-01-28 ビージーアイ ヘルス サービス カンパニー リミテッド 胎児の遺伝的異常の非侵襲的検出
US9139874B2 (en) 2011-07-07 2015-09-22 Life Technologies Corporation Bi-directional sequencing compositions and methods
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
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
ES2886508T3 (es) 2011-10-06 2021-12-20 Sequenom Inc Métodos y procedimientos para la evaluación no invasiva de variaciones genéticas
US8688388B2 (en) 2011-10-11 2014-04-01 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2851537C (en) 2011-10-11 2020-12-29 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
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
US10504613B2 (en) 2012-12-20 2019-12-10 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
DK3663409T3 (da) 2012-05-21 2021-12-13 Sequenom Inc Fremgangsmåder og processer til ikke-invasiv bedømmelse af genetiske variationer
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
EP2904534B1 (en) 2012-10-04 2021-12-15 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
FI2981921T3 (fi) 2013-04-03 2023-03-09 Sequenom Inc Menetelmiä ja prosesseja geneettisten variaatioiden ei-invasiiviseen arviointiin
KR102665592B1 (ko) 2013-05-24 2024-05-21 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
HUE042654T2 (hu) 2013-06-21 2019-07-29 Sequenom Inc Eljárás genetikai variációk nem-invazív megállapítására
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
MY181069A (en) 2013-10-04 2020-12-17 Sequenom Inc Methods and processes for non-invasive assessment of genetic variations
CN111863131A (zh) 2013-10-07 2020-10-30 塞昆纳姆股份有限公司 用于非侵入性评估染色体改变的方法和过程
CA3191504A1 (en) 2014-05-30 2015-12-03 Sequenom, Inc. Chromosome representation determinations
EP3760739A1 (en) 2014-07-30 2021-01-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations

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