ATE503024T1 - Nachweis chromosomaler störungen - Google Patents

Nachweis chromosomaler störungen

Info

Publication number
ATE503024T1
ATE503024T1 AT05740284T AT05740284T ATE503024T1 AT E503024 T1 ATE503024 T1 AT E503024T1 AT 05740284 T AT05740284 T AT 05740284T AT 05740284 T AT05740284 T AT 05740284T AT E503024 T1 ATE503024 T1 AT E503024T1
Authority
AT
Austria
Prior art keywords
dna
targeted
chromosomal disorders
spots
imaging
Prior art date
Application number
AT05740284T
Other languages
English (en)
Inventor
Zhiyi Xie
Soonkap Hahn
Tim Watanaskul
Original Assignee
Novartis Ag
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 Novartis Ag filed Critical Novartis Ag
Application granted granted Critical
Publication of ATE503024T1 publication Critical patent/ATE503024T1/de

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Classifications

    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6834Enzymatic or biochemical coupling of nucleic acids to a solid phase
    • C12Q1/6837Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Biotechnology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biophysics (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Organic Insulating Materials (AREA)
AT05740284T 2004-05-05 2005-04-18 Nachweis chromosomaler störungen ATE503024T1 (de)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US10/840,208 US7468249B2 (en) 2004-05-05 2004-05-05 Detection of chromosomal disorders
PCT/US2005/013070 WO2005111237A1 (en) 2004-05-05 2005-04-18 Detection of chromosomal disorders

Publications (1)

Publication Number Publication Date
ATE503024T1 true ATE503024T1 (de) 2011-04-15

Family

ID=34967157

Family Applications (1)

Application Number Title Priority Date Filing Date
AT05740284T ATE503024T1 (de) 2004-05-05 2005-04-18 Nachweis chromosomaler störungen

Country Status (8)

Country Link
US (1) US7468249B2 (de)
EP (1) EP1759011B1 (de)
JP (1) JP5032304B2 (de)
KR (1) KR101176091B1 (de)
CN (1) CN1981052A (de)
AT (1) ATE503024T1 (de)
DE (1) DE602005027067D1 (de)
WO (1) WO2005111237A1 (de)

Families Citing this family (84)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6913697B2 (en) 2001-02-14 2005-07-05 Science & Technology Corporation @ Unm Nanostructured separation and analysis devices for biological membranes
ES2375724T3 (es) 2002-09-27 2012-03-05 The General Hospital Corporation Dispositivo microflu�?dico para seperación de células y sus usos.
US8024128B2 (en) * 2004-09-07 2011-09-20 Gene Security Network, Inc. System and method for improving clinical decisions by aggregating, validating and analysing genetic and phenotypic data
US20070196820A1 (en) 2005-04-05 2007-08-23 Ravi Kapur Devices and methods for enrichment and alteration of cells and other particles
EP2477029A1 (de) 2005-06-02 2012-07-18 Fluidigm Corporation Auswertung mit mikrofluiden Aufteilungsvorrichtungen
US10083273B2 (en) 2005-07-29 2018-09-25 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US11111544B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US8921102B2 (en) 2005-07-29 2014-12-30 Gpb Scientific, Llc Devices and methods for enrichment and alteration of circulating tumor cells and other particles
US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US11111543B2 (en) 2005-07-29 2021-09-07 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
US9424392B2 (en) 2005-11-26 2016-08-23 Natera, Inc. System and method for cleaning noisy genetic data from target individuals using genetic data from genetically related individuals
US20070178501A1 (en) * 2005-12-06 2007-08-02 Matthew Rabinowitz System and method for integrating and validating genotypic, phenotypic and medical information into a database according to a standardized ontology
US20070027636A1 (en) * 2005-07-29 2007-02-01 Matthew Rabinowitz System and method for using genetic, phentoypic and clinical data to make predictions for clinical or lifestyle decisions
US8532930B2 (en) 2005-11-26 2013-09-10 Natera, Inc. Method for determining the number of copies of a chromosome in the genome of a target individual using genetic data from genetically related individuals
US8515679B2 (en) * 2005-12-06 2013-08-20 Natera, Inc. System and method for cleaning noisy genetic data and determining chromosome copy number
WO2007080583A2 (en) * 2006-01-10 2007-07-19 Applied Spectral Imaging Ltd. Methods and systems for analyzing biological samples
EP2029779A4 (de) 2006-06-14 2010-01-20 Living Microsystems Inc Verwendung hoch paralleler snp-genotypisierung zur fötalen diagnose
US8372584B2 (en) 2006-06-14 2013-02-12 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
WO2007147018A1 (en) * 2006-06-14 2007-12-21 Cellpoint Diagnostics, Inc. Analysis of rare cell-enriched samples
US20080090237A1 (en) * 2006-10-13 2008-04-17 Zohar Yakhini Methods and compositions for comparing chromosomal copy number between genomic samples
KR100920134B1 (ko) 2007-06-29 2009-10-08 차의과학대학교 산학협력단 Y 염색체 미세결실 검출용 마이크로어레이 및 이를이용한 검출방법
US8709726B2 (en) 2008-03-11 2014-04-29 Sequenom, Inc. Nucleic acid-based tests for prenatal gender determination
CN104732118B (zh) 2008-08-04 2017-08-22 纳特拉公司 等位基因调用和倍性调用的方法
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
US8962247B2 (en) 2008-09-16 2015-02-24 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non invasive prenatal diagnoses
SMT201700149T1 (it) 2008-09-20 2017-05-08 Univ Leland Stanford Junior Diagnosi non invasiva di aneuploidia fetale mediante sequenziamento
US20100151473A1 (en) * 2008-12-10 2010-06-17 Yeakley Joanne M Methods and compositions for hybridizing nucleic acids
WO2011027218A1 (en) * 2009-09-04 2011-03-10 Progenika Biopharma, S.A. High throughput detection of genomic copy number variations
ES2640776T3 (es) 2009-09-30 2017-11-06 Natera, Inc. Métodos para denominar de forma no invasiva ploidía prenatal
US9926593B2 (en) 2009-12-22 2018-03-27 Sequenom, Inc. Processes and kits for identifying aneuploidy
US8774488B2 (en) 2010-03-11 2014-07-08 Cellscape Corporation Method and device for identification of nucleated red blood cells from a maternal blood sample
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US12221653B2 (en) 2010-05-18 2025-02-11 Natera, Inc. Methods for simultaneous amplification of target loci
US12152275B2 (en) 2010-05-18 2024-11-26 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US9677118B2 (en) 2014-04-21 2017-06-13 Natera, Inc. Methods for simultaneous amplification of target loci
US11339429B2 (en) 2010-05-18 2022-05-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10179937B2 (en) 2014-04-21 2019-01-15 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US20190010543A1 (en) 2010-05-18 2019-01-10 Natera, Inc. Methods for simultaneous amplification of target loci
US12545960B2 (en) 2010-05-18 2026-02-10 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11939634B2 (en) 2010-05-18 2024-03-26 Natera, Inc. Methods for simultaneous amplification of target loci
AU2011255641A1 (en) 2010-05-18 2012-12-06 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
CN102465123B (zh) * 2010-11-04 2013-06-12 北京金菩嘉医疗科技有限公司 一种核酸探针、含有该核酸探针的组合物及其用途
CA2821906C (en) 2010-12-22 2020-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
CA2824387C (en) 2011-02-09 2019-09-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CA2834218C (en) 2011-04-29 2021-02-16 Sequenom, Inc. Quantification of a minority nucleic acid species using inhibitory oligonucleotides
CN102703578B (zh) * 2011-07-06 2013-12-04 郭奇伟 Y染色体微缺失多重实时荧光pcr检测试剂盒
CN102559872B (zh) * 2011-12-09 2014-01-15 上海交通大学 检测Angelman综合征的基因芯片及使用方法、试剂盒
EP2820129A1 (de) 2012-03-02 2015-01-07 Sequenom, Inc. Verfahren und prozesse zur nichtinvasiven beurteilung genetischer variationen
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
JP2015519900A (ja) 2012-05-21 2015-07-16 フリューダイム・コーポレイション 粒子集団の単粒子解析方法及び単粒子単離方法
US20150154352A1 (en) * 2012-06-21 2015-06-04 Gigagen, Inc. System and Methods for Genetic Analysis of Mixed Cell Populations
WO2014011928A1 (en) 2012-07-13 2014-01-16 Sequenom, Inc. Processes and compositions for methylation-based enrichment of fetal nucleic acid from a maternal sample useful for non-invasive prenatal diagnoses
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
EP2971100A1 (de) 2013-03-13 2016-01-20 Sequenom, Inc. Primer zur analyse der dna-methylierung
WO2015045741A1 (ja) * 2013-09-26 2015-04-02 東洋鋼鈑株式会社 ハイブリダイゼーション用バッファー組成物及びハイブリダイゼーション方法
WO2015048535A1 (en) 2013-09-27 2015-04-02 Natera, Inc. Prenatal diagnostic resting standards
US10577655B2 (en) 2013-09-27 2020-03-03 Natera, Inc. Cell free DNA diagnostic testing standards
US10262755B2 (en) 2014-04-21 2019-04-16 Natera, Inc. Detecting cancer mutations and aneuploidy in chromosomal segments
EP3736344A1 (de) 2014-03-13 2020-11-11 Sequenom, Inc. Verfahren und prozesse zur nichtinvasiven beurteilung genetischer variationen
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
US20180173846A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
DK3294906T3 (en) 2015-05-11 2024-08-05 Natera Inc Methods for determining ploidy
US9422547B1 (en) 2015-06-09 2016-08-23 Gigagen, Inc. Recombinant fusion proteins and libraries from immune cell repertoires
WO2017181202A2 (en) 2016-04-15 2017-10-19 Natera, Inc. Methods for lung cancer detection
CA3017945A1 (en) * 2016-04-26 2017-11-02 Ultivue, Inc. Super-resolution immunofluorescence with diffraction-limited preview
WO2018067517A1 (en) 2016-10-04 2018-04-12 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
GB201618485D0 (en) 2016-11-02 2016-12-14 Ucl Business Plc Method of detecting tumour recurrence
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
EP3585889A1 (de) 2017-02-21 2020-01-01 Natera, Inc. Zusammensetzungen, verfahren und kits zur isolierung von nukleinsäuren
WO2019028462A1 (en) * 2017-08-04 2019-02-07 Billiontoone, Inc. TARGET-ASSOCIATED MOLECULES FOR CHARACTERIZATION ASSOCIATED WITH BIOLOGICAL TARGETS
CA3085933A1 (en) 2017-12-14 2019-06-20 Tai Diagnostics, Inc. Assessing graft suitability for transplantation
WO2019161244A1 (en) 2018-02-15 2019-08-22 Natera, Inc. Methods for isolating nucleic acids with size selection
EP3781714B1 (de) 2018-04-14 2026-01-07 Natera, Inc. Verfahren zur krebserkennung und -überwachung durch personalisierte detektion zirkulierender tumor-dna
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
WO2020191365A1 (en) 2019-03-21 2020-09-24 Gigamune, Inc. Engineered cells expressing anti-viral t cell receptors and methods of use thereof
US12305235B2 (en) 2019-06-06 2025-05-20 Natera, Inc. Methods for detecting immune cell DNA and monitoring immune system

Family Cites Families (15)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6040138A (en) * 1995-09-15 2000-03-21 Affymetrix, Inc. Expression monitoring by hybridization to high density oligonucleotide arrays
US5213961A (en) 1989-08-31 1993-05-25 Brigham And Women's Hospital Accurate quantitation of RNA and DNA by competetitive polymerase chain reaction
WO1994003638A1 (en) 1992-07-30 1994-02-17 Applied Biosystems, Inc. Method of detecting aneuploidy by amplified short tandem repeats
US5639606A (en) 1993-04-06 1997-06-17 The University Of Rochester Method for quantitative measurement of gene expression using multiplex competitive reverse transcriptase-polymerase chain reaction
US5643765A (en) 1993-04-06 1997-07-01 University Of Rochester Method for quantitative measurement of gene expression using multiplex competitive reverse transcriptase-polymerase chain reaction
JPH0723800A (ja) 1993-07-08 1995-01-27 Tanabe Seiyaku Co Ltd 核酸の検出方法
US5716784A (en) 1996-02-05 1998-02-10 The Perkin-Elmer Corporation Fluorescence detection assay for homogeneous PCR hybridization systems
US5888740A (en) * 1997-09-19 1999-03-30 Genaco Biomedical Products, Inc. Detection of aneuploidy and gene deletion by PCR-based gene- dose co-amplification of chromosome specific sequences with synthetic sequences with synthetic internal controls
GB9815799D0 (en) 1998-07-21 1998-09-16 Pharmagene Lab Limited Quantitative analysis of gene expression
US6268147B1 (en) 1998-11-02 2001-07-31 Kenneth Loren Beattie Nucleic acid analysis using sequence-targeted tandem hybridization
US6251601B1 (en) * 1999-02-02 2001-06-26 Vysis, Inc. Simultaneous measurement of gene expression and genomic abnormalities using nucleic acid microarrays
US6319674B1 (en) * 1999-09-16 2001-11-20 Agilent Technologies, Inc. Methods for attaching substances to surfaces
WO2003000919A2 (en) * 2001-06-22 2003-01-03 University Of Geneva Method for detecting diseases caused by chromosomal imbalances
EP1329517A1 (de) * 2002-01-22 2003-07-23 Wolfgang Prof. Holzgreve Methode zur non-invasiven prenatalen Diagnose chromosomaler und/oder geneticher Abnormalitäten
US20050191636A1 (en) * 2004-03-01 2005-09-01 Biocept, Inc. Detection of STRP, such as fragile X syndrome

Also Published As

Publication number Publication date
EP1759011A1 (de) 2007-03-07
JP5032304B2 (ja) 2012-09-26
US20050250111A1 (en) 2005-11-10
KR101176091B1 (ko) 2012-08-22
DE602005027067D1 (de) 2011-05-05
KR20070031923A (ko) 2007-03-20
EP1759011B1 (de) 2011-03-23
CN1981052A (zh) 2007-06-13
WO2005111237A1 (en) 2005-11-24
US7468249B2 (en) 2008-12-23
JP2007535928A (ja) 2007-12-13

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