JP5032304B2 - 染色体異常の検出 - Google Patents
染色体異常の検出 Download PDFInfo
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- JP5032304B2 JP5032304B2 JP2007511389A JP2007511389A JP5032304B2 JP 5032304 B2 JP5032304 B2 JP 5032304B2 JP 2007511389 A JP2007511389 A JP 2007511389A JP 2007511389 A JP2007511389 A JP 2007511389A JP 5032304 B2 JP5032304 B2 JP 5032304B2
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- C—CHEMISTRY; METALLURGY
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- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
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- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6834—Enzymatic or biochemical coupling of nucleic acids to a solid phase
- C12Q1/6837—Enzymatic or biochemical coupling of nucleic acids to a solid phase using probe arrays or probe chips
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- 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
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Applications Claiming Priority (3)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US10/840,208 | 2004-05-05 | ||
| 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 (3)
| Publication Number | Publication Date |
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| JP2007535928A JP2007535928A (ja) | 2007-12-13 |
| JP2007535928A5 JP2007535928A5 (enExample) | 2008-05-29 |
| JP5032304B2 true JP5032304B2 (ja) | 2012-09-26 |
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| JP2007511389A Expired - Fee Related JP5032304B2 (ja) | 2004-05-05 | 2005-04-18 | 染色体異常の検出 |
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| Country | Link |
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| US (1) | US7468249B2 (enExample) |
| EP (1) | EP1759011B1 (enExample) |
| JP (1) | JP5032304B2 (enExample) |
| KR (1) | KR101176091B1 (enExample) |
| CN (1) | CN1981052A (enExample) |
| AT (1) | ATE503024T1 (enExample) |
| DE (1) | DE602005027067D1 (enExample) |
| WO (1) | WO2005111237A1 (enExample) |
Families Citing this family (83)
| 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 |
| JP2006501449A (ja) | 2002-09-27 | 2006-01-12 | ザ ジェネラル ホスピタル コーポレーション | 細胞分離のためのマイクロ流体デバイスおよびその使用 |
| 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 (en) | 2005-06-02 | 2012-07-18 | Fluidigm Corporation | Analysis using microfluidic partitioning devices |
| US11111544B2 (en) | 2005-07-29 | 2021-09-07 | 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 |
| 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 |
| US11111543B2 (en) | 2005-07-29 | 2021-09-07 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| 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 |
| 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 |
| 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 |
| US8515679B2 (en) * | 2005-12-06 | 2013-08-20 | Natera, Inc. | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US10081839B2 (en) | 2005-07-29 | 2018-09-25 | Natera, Inc | System and method for cleaning noisy genetic data and determining chromosome copy number |
| US9133506B2 (en) * | 2006-01-10 | 2015-09-15 | Applied Spectral Imaging Ltd. | Methods and systems for analyzing biological samples |
| US20080050739A1 (en) | 2006-06-14 | 2008-02-28 | Roland Stoughton | Diagnosis of fetal abnormalities using polymorphisms including short tandem repeats |
| US8137912B2 (en) | 2006-06-14 | 2012-03-20 | The General Hospital Corporation | Methods for the diagnosis of fetal abnormalities |
| WO2007147074A2 (en) | 2006-06-14 | 2007-12-21 | Living Microsystems, Inc. | Use of highly parallel snp genotyping for fetal diagnosis |
| EP2589668A1 (en) | 2006-06-14 | 2013-05-08 | Verinata Health, Inc | Rare cell analysis using sample splitting and DNA tags |
| WO2008111990A1 (en) * | 2006-06-14 | 2008-09-18 | Cellpoint Diagnostics, Inc. | Rare cell analysis using sample splitting and dna tags |
| 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 |
| US20110178719A1 (en) | 2008-08-04 | 2011-07-21 | Gene Security Network, Inc. | Methods for Allele Calling and Ploidy Calling |
| 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 |
| 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 |
| CA2737643C (en) | 2008-09-20 | 2020-10-06 | Hei-Mun Fan | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| WO2010068702A2 (en) * | 2008-12-10 | 2010-06-17 | Illumina, Inc. | Methods and compositions for hybridizing nucleic acids |
| US20120215459A1 (en) * | 2009-09-04 | 2012-08-23 | Marianne Stef | High throughput detection of genomic copy number variations |
| EP2473638B1 (en) | 2009-09-30 | 2017-08-09 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| EP2516680B1 (en) | 2009-12-22 | 2016-04-06 | 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 |
| US11408031B2 (en) | 2010-05-18 | 2022-08-09 | Natera, Inc. | Methods for non-invasive prenatal paternity testing |
| US20190010543A1 (en) | 2010-05-18 | 2019-01-10 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US8825412B2 (en) | 2010-05-18 | 2014-09-02 | Natera, Inc. | Methods for non-invasive prenatal ploidy calling |
| US11322224B2 (en) | 2010-05-18 | 2022-05-03 | 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 |
| US12221653B2 (en) | 2010-05-18 | 2025-02-11 | 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 |
| US10316362B2 (en) | 2010-05-18 | 2019-06-11 | Natera, Inc. | Methods for simultaneous amplification of target loci |
| US11326208B2 (en) | 2010-05-18 | 2022-05-10 | Natera, Inc. | Methods for nested PCR amplification of cell-free DNA |
| US11939634B2 (en) | 2010-05-18 | 2024-03-26 | 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 |
| US12152275B2 (en) | 2010-05-18 | 2024-11-26 | 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 |
| 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 |
| US9605313B2 (en) | 2012-03-02 | 2017-03-28 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2874343C (en) | 2012-05-21 | 2021-11-09 | Fluidigm Corporation | Single-particle analysis of particle populations |
| 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 |
| US20150154352A1 (en) * | 2012-06-21 | 2015-06-04 | Gigagen, Inc. | System and Methods for Genetic Analysis of Mixed Cell Populations |
| US20140093873A1 (en) | 2012-07-13 | 2014-04-03 | 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 (en) | 2013-03-13 | 2016-01-20 | Sequenom, Inc. | Primers for dna methylation analysis |
| 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 |
| US9499870B2 (en) | 2013-09-27 | 2016-11-22 | 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 |
| US10577655B2 (en) | 2013-09-27 | 2020-03-03 | Natera, Inc. | Cell free DNA diagnostic testing standards |
| US11365447B2 (en) | 2014-03-13 | 2022-06-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| US12492429B2 (en) | 2014-04-21 | 2025-12-09 | Natera, Inc. | Detecting mutations and ploidy in chromosomal segments |
| EP3957749A1 (en) | 2014-04-21 | 2022-02-23 | Natera, Inc. | Detecting tumour specific mutations in biopsies with whole exome sequencing and in cell-free samples |
| US20180173846A1 (en) | 2014-06-05 | 2018-06-21 | Natera, Inc. | Systems and Methods for Detection of Aneuploidy |
| US11479812B2 (en) | 2015-05-11 | 2022-10-25 | Natera, Inc. | Methods and compositions for determining ploidy |
| US9422547B1 (en) | 2015-06-09 | 2016-08-23 | Gigagen, Inc. | Recombinant fusion proteins and libraries from immune cell repertoires |
| JP7280044B2 (ja) | 2016-04-15 | 2023-05-23 | ナテラ， インコーポレイテッド | 肺癌の検出方法 |
| AU2017257597A1 (en) * | 2016-04-26 | 2018-10-04 | 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 |
| US10894976B2 (en) | 2017-02-21 | 2021-01-19 | Natera, Inc. | Compositions, methods, and kits for isolating nucleic acids |
| CN111051511A (zh) * | 2017-08-04 | 2020-04-21 | 十亿至一公司 | 用于与生物靶相关的表征的靶相关分子 |
| WO2019118926A1 (en) | 2017-12-14 | 2019-06-20 | Tai Diagnostics, Inc. | Assessing graft suitability for transplantation |
| US12398389B2 (en) | 2018-02-15 | 2025-08-26 | Natera, Inc. | Methods for isolating nucleic acids with size selection |
| US12024738B2 (en) | 2018-04-14 | 2024-07-02 | Natera, Inc. | Methods for cancer detection and monitoring |
| 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 |
| WO2020247263A1 (en) | 2019-06-06 | 2020-12-10 | Natera, Inc. | Methods for detecting immune cell dna and monitoring immune system |
Family Cites Families (15)
| 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 |
| 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 |
| 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 |
| 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 |
| IL159482A0 (en) * | 2001-06-22 | 2004-06-01 | Univ Geneve | Method for detecting diseases caused by chromosomal imbalances |
| EP1329517A1 (en) * | 2002-01-22 | 2003-07-23 | Wolfgang Prof. Holzgreve | Method for the non-invasive prenatal diagnosis of chromosomal and/or genetic abnormalities |
| US20050191636A1 (en) * | 2004-03-01 | 2005-09-01 | Biocept, Inc. | Detection of STRP, such as fragile X syndrome |
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Also Published As
| Publication number | Publication date |
|---|---|
| EP1759011A1 (en) | 2007-03-07 |
| EP1759011B1 (en) | 2011-03-23 |
| DE602005027067D1 (de) | 2011-05-05 |
| KR20070031923A (ko) | 2007-03-20 |
| WO2005111237A1 (en) | 2005-11-24 |
| CN1981052A (zh) | 2007-06-13 |
| JP2007535928A (ja) | 2007-12-13 |
| US20050250111A1 (en) | 2005-11-10 |
| ATE503024T1 (de) | 2011-04-15 |
| KR101176091B1 (ko) | 2012-08-22 |
| US7468249B2 (en) | 2008-12-23 |
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