JP5659319B2 - 胎児の遺伝的異常の非侵襲的検出 - Google Patents
胎児の遺伝的異常の非侵襲的検出 Download PDFInfo
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- JP5659319B2 JP5659319B2 JP2014517369A JP2014517369A JP5659319B2 JP 5659319 B2 JP5659319 B2 JP 5659319B2 JP 2014517369 A JP2014517369 A JP 2014517369A JP 2014517369 A JP2014517369 A JP 2014517369A JP 5659319 B2 JP5659319 B2 JP 5659319B2
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- G—PHYSICS
- G16—INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
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- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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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
- C12Q1/6844—Nucleic acid amplification reactions
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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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- 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
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- 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
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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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
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- 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
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- 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
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Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2011/001070 WO2013000100A1 (en) | 2011-06-29 | 2011-06-29 | Noninvasive detection of fetal genetic abnormality |
Publications (3)
| Publication Number | Publication Date |
|---|---|
| JP2014520509A JP2014520509A (ja) | 2014-08-25 |
| JP2014520509A5 JP2014520509A5 (cg-RX-API-DMAC7.html) | 2014-10-02 |
| JP5659319B2 true JP5659319B2 (ja) | 2015-01-28 |
Family
ID=47392194
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2014517369A Active JP5659319B2 (ja) | 2011-06-29 | 2011-06-29 | 胎児の遺伝的異常の非侵襲的検出 |
Country Status (17)
| Country | Link |
|---|---|
| US (1) | US9547748B2 (cg-RX-API-DMAC7.html) |
| EP (1) | EP2561103B1 (cg-RX-API-DMAC7.html) |
| JP (1) | JP5659319B2 (cg-RX-API-DMAC7.html) |
| KR (1) | KR101489568B1 (cg-RX-API-DMAC7.html) |
| CN (1) | CN103403183B (cg-RX-API-DMAC7.html) |
| AU (1) | AU2012261664B2 (cg-RX-API-DMAC7.html) |
| BR (1) | BR112012033760B1 (cg-RX-API-DMAC7.html) |
| CA (2) | CA2791118C (cg-RX-API-DMAC7.html) |
| DK (1) | DK2561103T3 (cg-RX-API-DMAC7.html) |
| ES (1) | ES2512448T3 (cg-RX-API-DMAC7.html) |
| MY (1) | MY172864A (cg-RX-API-DMAC7.html) |
| PL (1) | PL2561103T3 (cg-RX-API-DMAC7.html) |
| RU (1) | RU2589681C2 (cg-RX-API-DMAC7.html) |
| SG (1) | SG191757A1 (cg-RX-API-DMAC7.html) |
| SI (1) | SI2561103T1 (cg-RX-API-DMAC7.html) |
| WO (1) | WO2013000100A1 (cg-RX-API-DMAC7.html) |
| ZA (1) | ZA201209583B (cg-RX-API-DMAC7.html) |
Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9547748B2 (en) | 2011-06-29 | 2017-01-17 | Bgi Health Service Co., Ltd. | Method for determining fetal chromosomal abnormality |
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| US11270781B2 (en) | 2011-01-25 | 2022-03-08 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| US20140235474A1 (en) | 2011-06-24 | 2014-08-21 | Sequenom, Inc. | Methods and processes for non invasive assessment of a genetic variation |
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | 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 |
| 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 |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex 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 |
| 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 |
| US20130309666A1 (en) | 2013-01-25 | 2013-11-21 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2901460A1 (en) | 2013-02-20 | 2014-08-28 | Bionano Genomics, Inc. | Characterization of molecules in nanofluidics |
| WO2015130696A1 (en) | 2014-02-25 | 2015-09-03 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| US10844424B2 (en) | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
| WO2014133369A1 (ko) * | 2013-02-28 | 2014-09-04 | 주식회사 테라젠이텍스 | 유전체 서열분석을 이용한 태아 염색체 이수성의 진단 방법 및 장치 |
| PL2981921T3 (pl) * | 2013-04-03 | 2023-05-08 | Sequenom, Inc. | Metody i procesy nieinwazyjnej oceny zmienności genetycznych |
| AU2014268377B2 (en) * | 2013-05-24 | 2020-10-08 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CA2898747C (en) * | 2013-06-13 | 2021-09-21 | Ariosa Diagnostics, Inc. | Statistical analysis for non-invasive sex chromosome aneuploidy determination |
| US10622094B2 (en) * | 2013-06-21 | 2020-04-14 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| IL320112A (en) * | 2013-10-04 | 2025-06-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
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| CN103525939B (zh) * | 2013-10-28 | 2015-12-02 | 博奥生物集团有限公司 | 无创检测胎儿染色体非整倍体的方法和系统 |
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| CN104156631B (zh) * | 2014-07-14 | 2017-07-18 | 天津华大基因科技有限公司 | 染色体三倍体检验方法 |
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| EP2140027B1 (en) | 2006-12-07 | 2012-07-18 | Novartis AG | Non-invasive prenatal genetic screen |
| EP3892736A1 (en) | 2007-07-23 | 2021-10-13 | The Chinese University of Hong Kong | Determining a nucleic acid sequence imbalance |
| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| EP2952589B1 (en) | 2008-09-20 | 2018-02-14 | The Board of Trustees of The Leland Stanford Junior University | Noninvasive diagnosis of fetal aneuploidy by sequencing |
| CN103403183B (zh) | 2011-06-29 | 2014-10-15 | 深圳华大基因医学有限公司 | 胎儿遗传异常的无创性检测 |
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Cited By (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US9547748B2 (en) | 2011-06-29 | 2017-01-17 | Bgi Health Service Co., Ltd. | Method for determining fetal chromosomal abnormality |
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| ZA201209583B (en) | 2014-01-29 |
| WO2013000100A1 (en) | 2013-01-03 |
| PL2561103T3 (pl) | 2015-02-27 |
| CN103403183A (zh) | 2013-11-20 |
| ES2512448T3 (es) | 2014-10-24 |
| US9547748B2 (en) | 2017-01-17 |
| JP2014520509A (ja) | 2014-08-25 |
| CN103403183B (zh) | 2014-10-15 |
| HK1190758A1 (en) | 2014-07-11 |
| EP2561103B1 (en) | 2014-08-27 |
| RU2589681C2 (ru) | 2016-07-10 |
| RU2012158107A (ru) | 2015-08-10 |
| KR101489568B1 (ko) | 2015-02-03 |
| AU2012261664B2 (en) | 2014-07-03 |
| CA2791118A1 (en) | 2012-12-29 |
| CA2791118C (en) | 2019-05-07 |
| EP2561103A1 (en) | 2013-02-27 |
| SI2561103T1 (sl) | 2014-11-28 |
| CA2948939A1 (en) | 2012-12-29 |
| US20140099642A1 (en) | 2014-04-10 |
| BR112012033760A2 (pt) | 2018-02-27 |
| MY172864A (en) | 2019-12-13 |
| CA2948939C (en) | 2021-02-02 |
| KR20140023847A (ko) | 2014-02-27 |
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| AU2012261664A1 (en) | 2013-01-17 |
| EP2561103A4 (en) | 2013-08-07 |
| BR112012033760B1 (pt) | 2020-11-17 |
| DK2561103T3 (da) | 2014-10-20 |
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