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WO2006010610A3 - Verfahren zum bestimmen der häufigkeit von sequenzen in einer probe - Google Patents

Verfahren zum bestimmen der häufigkeit von sequenzen in einer probe Download PDF

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Publication number
WO2006010610A3
WO2006010610A3 PCT/EP2005/008156 EP2005008156W WO2006010610A3 WO 2006010610 A3 WO2006010610 A3 WO 2006010610A3 EP 2005008156 W EP2005008156 W EP 2005008156W WO 2006010610 A3 WO2006010610 A3 WO 2006010610A3
Authority
WO
WIPO (PCT)
Prior art keywords
sample
sequence
abundance
sequences
amplified
Prior art date
Application number
PCT/EP2005/008156
Other languages
English (en)
French (fr)
Other versions
WO2006010610A2 (de
Inventor
Wolfgang Mann
Christoph Gauer
Original Assignee
Alopex Gmbh
Advalytix Ag
Wolfgang Mann
Christoph Gauer
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 Alopex Gmbh, Advalytix Ag, Wolfgang Mann, Christoph Gauer filed Critical Alopex Gmbh
Priority to US11/631,986 priority Critical patent/US20080193927A1/en
Priority to JP2007523013A priority patent/JP2008507963A/ja
Priority to EP05776036A priority patent/EP1771577A2/de
Priority to CA002574832A priority patent/CA2574832A1/en
Publication of WO2006010610A2 publication Critical patent/WO2006010610A2/de
Publication of WO2006010610A3 publication Critical patent/WO2006010610A3/de

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    • 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
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6851Quantitative amplification

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  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Genetics & Genomics (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Investigating Or Analyzing Materials By The Use Of Electric Means (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Analysing Materials By The Use Of Radiation (AREA)

Abstract

Die Erfindung betrifft ein Verfahren zum Bestimmen der Häufigkeit einer vorbestimmten Sequenz oder mehrerer zur vorbestimmten Sequenz identische oder nahezu identische Sequenzen einer Probe. Das Verfahren umfasst folgende Schritte: Ausführen einer oder mehrerer Amplifikationsreaktionen mit welchen mehrere unterschiedliche Abschnitte der Sequenz bzw. Sequenzen der Probe zu einem Amplifikat amplifiziert werden können, Nachweisen, ob bestimmte unterschiedliche Abschnitte der Sequenz der Probe amplifiziert worden sind, und Bestimmen der Anzahl der Sequenz(en) in der Probe anhand der Häufigkeit des Vorhandenseins bzw. Nicht-Vorhandenseins der bestimmten unterschiedlichen Abschnitte im Amplifikat.
PCT/EP2005/008156 2004-07-27 2005-07-27 Verfahren zum bestimmen der häufigkeit von sequenzen in einer probe WO2006010610A2 (de)

Priority Applications (4)

Application Number Priority Date Filing Date Title
US11/631,986 US20080193927A1 (en) 2004-07-27 2005-07-27 Method for Determining the Abundance of Sequences in a Sample
JP2007523013A JP2008507963A (ja) 2004-07-27 2005-07-27 サンプル中のシーケンスの個体数を決定するための方法、その方法を実施するためのキット及び装置
EP05776036A EP1771577A2 (de) 2004-07-27 2005-07-27 Verfahren zum bestimmen der h[ufigkeit von sequenzen in einer probe
CA002574832A CA2574832A1 (en) 2004-07-27 2005-07-27 Method for determining the abundance of sequences in a sample

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
DE102004036285.8 2004-07-27
DE102004036285A DE102004036285A1 (de) 2004-07-27 2004-07-27 Verfahren zum Bestimmen der Häufigkeit von Sequenzen einer Probe

Publications (2)

Publication Number Publication Date
WO2006010610A2 WO2006010610A2 (de) 2006-02-02
WO2006010610A3 true WO2006010610A3 (de) 2006-06-22

Family

ID=35668633

Family Applications (1)

Application Number Title Priority Date Filing Date
PCT/EP2005/008156 WO2006010610A2 (de) 2004-07-27 2005-07-27 Verfahren zum bestimmen der häufigkeit von sequenzen in einer probe

Country Status (7)

Country Link
US (1) US20080193927A1 (de)
EP (1) EP1771577A2 (de)
JP (1) JP2008507963A (de)
CN (1) CN1997757A (de)
CA (1) CA2574832A1 (de)
DE (1) DE102004036285A1 (de)
WO (1) WO2006010610A2 (de)

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US8137912B2 (en) 2006-06-14 2012-03-20 The General Hospital Corporation Methods for the diagnosis of fetal abnormalities
US8168389B2 (en) 2006-06-14 2012-05-01 The General Hospital Corporation Fetal cell analysis using sample splitting
US8195415B2 (en) 2008-09-20 2012-06-05 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation
US9447453B2 (en) 2011-04-12 2016-09-20 Verinata Health, Inc. Resolving genome fractions using polymorphism counts
US9493831B2 (en) 2010-01-23 2016-11-15 Verinata Health, Inc. Methods of fetal abnormality detection

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US10081839B2 (en) 2005-07-29 2018-09-25 Natera, Inc System and method for cleaning noisy genetic data and determining chromosome copy number
US10083273B2 (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
US11111544B2 (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
DE102005045560B4 (de) * 2005-09-23 2009-02-12 Advalytix Ag Verfahren zur quantitativen Bestimmung der Kopienzahl einer vorbestimmten Sequenz in einer Zelle
DE102005051816A1 (de) * 2005-10-28 2007-05-10 Advalytix Ag Verfahren zur relativen Bestimmung der Kopienzahl einer vorbestimmten Sequenz in einer biologischen Probe
DE102005059227A1 (de) * 2005-12-12 2007-06-14 Advalytix Ag Verfahren zur Bestimmung des Genotyps aus einer biologischen Probe enthaltend Nukleinsäuren unterschiedlicher Individuen
DK2385143T3 (en) 2006-02-02 2016-09-19 Univ Leland Stanford Junior Non-invasive fetal genetic screening by digital analysis
DE102006014000B4 (de) * 2006-03-27 2009-08-06 Advalytix Ag Verfahren zur Charakterisierung einer Mischprobe
DK2002016T3 (da) * 2006-04-12 2010-03-29 Medical Res Council Fremgangsmåde til bestemmelse af kopital
EP2029779A4 (de) 2006-06-14 2010-01-20 Living Microsystems Inc Verwendung hoch paralleler snp-genotypisierung zur fötalen diagnose
US20080050739A1 (en) 2006-06-14 2008-02-28 Roland Stoughton Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats
US12180549B2 (en) 2007-07-23 2024-12-31 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using genomic sequencing
CA3076159C (en) 2007-07-23 2022-05-24 The Chinese University Of Hong Kong Analyzing tumor dna in a cell-free sample
WO2009105531A1 (en) * 2008-02-19 2009-08-27 Gene Security Network, Inc. Methods for cell genotyping
DE102008019132A1 (de) * 2008-04-16 2009-10-22 Olympus Life Science Research Europa Gmbh Verfahren zur quantitativen Bestimmung der Kopienzahl einer vorbestimmten Sequenz in einer Probe
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
SG173081A1 (en) 2009-01-30 2011-08-29 Kantonsspital Aarau Ag Gene dosage analysis
EP2473638B1 (de) 2009-09-30 2017-08-09 Natera, Inc. Verfahren zur nichtinvasiven pränatalen ploidiezuordnung
WO2011090559A1 (en) 2010-01-19 2011-07-28 Verinata Health, Inc. Sequencing methods and compositions for prenatal diagnoses
US10388403B2 (en) 2010-01-19 2019-08-20 Verinata Health, Inc. Analyzing copy number variation in the detection of cancer
US20120010085A1 (en) 2010-01-19 2012-01-12 Rava Richard P Methods for determining fraction of fetal nucleic acids in maternal samples
CA2786565C (en) 2010-01-19 2017-04-25 Verinata Health, Inc. Partition defined detection methods
US20120100548A1 (en) 2010-10-26 2012-04-26 Verinata Health, Inc. Method for determining copy number variations
EP2513341B1 (de) 2010-01-19 2017-04-12 Verinata Health, Inc Identifizierung von polymorphen sequenzen in mischungen aus genomischer dna durch gesamtgenomsequenzierung
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
US11408031B2 (en) 2010-05-18 2022-08-09 Natera, Inc. Methods for non-invasive prenatal paternity testing
US11326208B2 (en) 2010-05-18 2022-05-10 Natera, Inc. Methods for nested PCR amplification of cell-free DNA
US11322224B2 (en) 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US11332785B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for non-invasive prenatal ploidy calling
CA3207599A1 (en) 2010-05-18 2011-11-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling
US11332793B2 (en) 2010-05-18 2022-05-17 Natera, Inc. Methods for simultaneous amplification of target loci
US11939634B2 (en) 2010-05-18 2024-03-26 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
JP6328934B2 (ja) 2010-12-22 2018-05-23 ナテラ, インコーポレイテッド 非侵襲性出生前親子鑑定法
BR112013020220B1 (pt) 2011-02-09 2020-03-17 Natera, Inc. Método para determinar o estado de ploidia de um cromossomo em um feto em gestação
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
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US9499870B2 (en) 2013-09-27 2016-11-22 Natera, Inc. Cell free DNA diagnostic testing 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
CA2945962C (en) 2014-04-21 2023-08-29 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
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
US11479812B2 (en) 2015-05-11 2022-10-25 Natera, Inc. Methods and compositions for determining ploidy
DE102015111329B4 (de) * 2015-07-13 2017-02-02 Bernd-Peter Ernst Verfahren zum Bestimmen einer relativen Häufigkeit von verschiedenen Genen oder Chromosomen eines Genoms in einer Probe
US12146195B2 (en) 2016-04-15 2024-11-19 Natera, Inc. Methods for lung cancer detection
US11485996B2 (en) 2016-10-04 2022-11-01 Natera, Inc. Methods for characterizing copy number variation using proximity-litigation sequencing
US10011870B2 (en) 2016-12-07 2018-07-03 Natera, Inc. Compositions and methods for identifying nucleic acid molecules
CA3049139A1 (en) 2017-02-21 2018-08-30 Natera, Inc. Compositions, methods, and kits for isolating nucleic acids
US12084720B2 (en) 2017-12-14 2024-09-10 Natera, Inc. Assessing graft suitability for transplantation
AU2019251504A1 (en) 2018-04-14 2020-08-13 Natera, Inc. Methods for cancer detection and monitoring by means of personalized detection of circulating tumor DNA
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
EP3851540A1 (de) * 2020-01-17 2021-07-21 SensID GmbH Neues verfahren zur bestimmung der allelfrequenz / mutationsrate und diagnostik
WO2023226016A1 (zh) * 2022-05-27 2023-11-30 京东方科技集团股份有限公司 非特异性扩增序列的来源引物鉴定方法、装置、设备

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Cited By (18)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9273355B2 (en) 2006-06-14 2016-03-01 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US8168389B2 (en) 2006-06-14 2012-05-01 The General Hospital Corporation Fetal cell analysis using sample splitting
US10155984B2 (en) 2006-06-14 2018-12-18 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US10041119B2 (en) 2006-06-14 2018-08-07 Verinata Health, Inc. Methods for the diagnosis of fetal abnormalities
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
US9017942B2 (en) 2006-06-14 2015-04-28 The General Hospital Corporation Rare cell analysis using sample splitting and DNA tags
US9347100B2 (en) 2006-06-14 2016-05-24 Gpb Scientific, Llc Rare cell analysis using sample splitting and DNA tags
US8682594B2 (en) 2008-09-20 2014-03-25 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US9353414B2 (en) 2008-09-20 2016-05-31 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US9404157B2 (en) 2008-09-20 2016-08-02 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US8296076B2 (en) 2008-09-20 2012-10-23 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuoploidy by sequencing
US8195415B2 (en) 2008-09-20 2012-06-05 The Board Of Trustees Of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
US9260745B2 (en) 2010-01-19 2016-02-16 Verinata Health, Inc. Detecting and classifying copy number variation
US9323888B2 (en) 2010-01-19 2016-04-26 Verinata Health, Inc. Detecting and classifying copy number variation
US9493831B2 (en) 2010-01-23 2016-11-15 Verinata Health, Inc. Methods of fetal abnormality detection
US9447453B2 (en) 2011-04-12 2016-09-20 Verinata Health, Inc. Resolving genome fractions using polymorphism counts
US9411937B2 (en) 2011-04-15 2016-08-09 Verinata Health, Inc. Detecting and classifying copy number variation

Also Published As

Publication number Publication date
EP1771577A2 (de) 2007-04-11
WO2006010610A2 (de) 2006-02-02
CA2574832A1 (en) 2006-02-02
CN1997757A (zh) 2007-07-11
DE102004036285A1 (de) 2006-02-16
JP2008507963A (ja) 2008-03-21
US20080193927A1 (en) 2008-08-14

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