ES2512448T3 - Detección no invasiva de anormalidades genéticas fetales - Google Patents
Detección no invasiva de anormalidades genéticas fetales Download PDFInfo
- Publication number
- ES2512448T3 ES2512448T3 ES11863253.8T ES11863253T ES2512448T3 ES 2512448 T3 ES2512448 T3 ES 2512448T3 ES 11863253 T ES11863253 T ES 11863253T ES 2512448 T3 ES2512448 T3 ES 2512448T3
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Classifications
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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
-
- 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
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
-
- 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
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- 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
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Genetics & Genomics (AREA)
- Organic Chemistry (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- General Engineering & Computer Science (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Pathology (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
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 (1)
| Publication Number | Publication Date |
|---|---|
| ES2512448T3 true ES2512448T3 (es) | 2014-10-24 |
Family
ID=47392194
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES11863253.8T Active ES2512448T3 (es) | 2011-06-29 | 2011-06-29 | Detección no invasiva de anormalidades genéticas fetales |
Country Status (17)
| Country | Link |
|---|---|
| US (1) | US9547748B2 (https=) |
| EP (1) | EP2561103B1 (https=) |
| JP (1) | JP5659319B2 (https=) |
| KR (1) | KR101489568B1 (https=) |
| CN (1) | CN103403183B (https=) |
| AU (1) | AU2012261664B2 (https=) |
| BR (1) | BR112012033760B1 (https=) |
| CA (2) | CA2948939C (https=) |
| DK (1) | DK2561103T3 (https=) |
| ES (1) | ES2512448T3 (https=) |
| MY (1) | MY172864A (https=) |
| PL (1) | PL2561103T3 (https=) |
| RU (1) | RU2589681C2 (https=) |
| SG (1) | SG191757A1 (https=) |
| SI (1) | SI2561103T1 (https=) |
| WO (1) | WO2013000100A1 (https=) |
| ZA (1) | ZA201209583B (https=) |
Families Citing this family (65)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| DK2561103T3 (da) | 2011-06-29 | 2014-10-20 | Bgi Diagnosis Co Ltd | Ikke-invasiv påvisning af føtal genetisk anomali |
| US9984198B2 (en) | 2011-10-06 | 2018-05-29 | Sequenom, Inc. | Reducing sequence read count error in assessment of complex genetic variations |
| CA2850785C (en) | 2011-10-06 | 2022-12-13 | 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 |
| US9367663B2 (en) | 2011-10-06 | 2016-06-14 | 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 |
| WO2013109981A1 (en) | 2012-01-20 | 2013-07-25 | Sequenom, Inc. | Diagnostic processes that factor experimental conditions |
| 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 |
| 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 |
| EP2959015B1 (en) * | 2013-02-20 | 2020-11-04 | Bionano Genomics, Inc. | Characterization of molecules in nanofluidics |
| 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 |
| EP4604127A3 (en) * | 2013-05-24 | 2025-12-03 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN112037860B (zh) * | 2013-06-13 | 2024-02-23 | 豪夫迈·罗氏有限公司 | 用于非入侵性性染色体非整倍性确定的统计分析 |
| HUE042654T2 (hu) * | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| IL304949B2 (en) | 2013-10-04 | 2025-09-01 | Sequenom Inc | Methods and processes for non-invasive assessment of genetic variations |
| EP3495496B1 (en) | 2013-10-07 | 2020-11-25 | Sequenom, Inc. | Methods and processes for non-invasive assessment of chromosome alterations |
| KR102429186B1 (ko) | 2013-10-21 | 2022-08-03 | 베리나타 헬스, 인코포레이티드 | 사본수 변동을 결정함에 있어서 검출의 감수성을 향상시키기 위한 방법 |
| 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 |
| CN106164295B (zh) * | 2014-02-25 | 2020-08-11 | 生物纳米基因公司 | 减小基因组覆盖测量中的偏差 |
| CA2950596C (en) * | 2014-05-30 | 2023-10-31 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies and copy number variations |
| 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 |
| WO2016010401A1 (ko) * | 2014-07-18 | 2016-01-21 | 에스케이텔레콘 주식회사 | 산모의 혈청 dna를 이용한 태아의 단일유전자 유전변이의 예측방법 |
| WO2016019042A1 (en) | 2014-07-30 | 2016-02-04 | Sequenom, Inc. | Methods and processes for non-invasive assessment of genetic variations |
| CN106795551B (zh) * | 2014-09-26 | 2020-11-20 | 深圳华大基因股份有限公司 | 单细胞染色体的cnv分析方法和检测装置 |
| EP3502273B1 (en) | 2014-12-12 | 2020-07-08 | Verinata Health, Inc. | Cell-free dna fragment |
| CN104789466B (zh) * | 2015-05-06 | 2018-03-13 | 安诺优达基因科技(北京)有限公司 | 检测染色体非整倍性的试剂盒和装置 |
| BE1022789B1 (nl) * | 2015-07-17 | 2016-09-06 | Multiplicom Nv | Werkwijze en systeem voor geslachtsinschatting van een foetus van een zwangere vrouw |
| KR101817785B1 (ko) * | 2015-08-06 | 2018-01-11 | 이원다이애그노믹스(주) | 다양한 플랫폼에서 태아의 성별과 성염색체 이상을 구분할 수 있는 새로운 방법 |
| KR101678962B1 (ko) | 2015-08-21 | 2016-12-06 | 이승재 | 대규모 병렬형 게놈서열분석 방법을 이용한 비침습적 산전검사 장치 및 방법 |
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| 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 |
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| ES2970286T3 (es) | 2018-01-05 | 2024-05-27 | Billiontoone Inc | Plantillas de control de calidad para garantizar la validez de ensayos basados en secuenciación |
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| CN110211654A (zh) * | 2019-05-30 | 2019-09-06 | 湖南自兴智慧医疗科技有限公司 | 一种自动隐藏性别信息的核型检测系统及方法 |
| CN111627498B (zh) * | 2020-05-21 | 2022-10-04 | 北京吉因加医学检验实验室有限公司 | 一种测序数据gc偏向性校正的方法及其装置 |
| RU2752783C1 (ru) * | 2020-12-18 | 2021-08-03 | Федеральное государственное бюджетное учреждение "Ивановский научно-исследовательский институт материнства и детства имени В.Н. Городкова" Министерства здравоохранения Российской Федерации | Способ прогнозирования анеуплоидии эмбрионов в программе экстракорпорального оплодотворения у женщин с эндометриоз-ассоциированным бесплодием |
| JP2024534899A (ja) * | 2021-09-03 | 2024-09-26 | アンスティチュ ナショナル ドゥ ラ サンテ エ ドゥ ラ ルシェルシュ メディカル | 非侵襲性出生前検査のための方法及びデバイス |
| JP2025509878A (ja) | 2022-03-21 | 2025-04-11 | ビリオントゥーワン,インコーポレイテッド | 処置モニタリングのためのメチル化セルフリーdnaの分子計数 |
| WO2025208288A1 (zh) * | 2024-04-01 | 2025-10-09 | 深圳华大生命科学研究院 | 基因预测方法、装置、计算机设备及计算机可读存储介质 |
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| US12180549B2 (en) | 2007-07-23 | 2024-12-31 | The Chinese University Of Hong Kong | Diagnosing fetal chromosomal aneuploidy using genomic sequencing |
| LT2557517T (lt) | 2007-07-23 | 2023-01-10 | The Chinese University Of Hong Kong | Nukleino rūgščių sekos disbalanso nustatymas |
| HUE031848T2 (en) * | 2008-09-20 | 2017-08-28 | Univ Leland Stanford Junior | Non-invasive diagnosis of fetal aneuploidy by sequencing |
| DK2561103T3 (da) | 2011-06-29 | 2014-10-20 | Bgi Diagnosis Co Ltd | Ikke-invasiv påvisning af føtal genetisk anomali |
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2011
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- 2011-06-29 WO PCT/CN2011/001070 patent/WO2013000100A1/en not_active Ceased
- 2011-06-29 CA CA2948939A patent/CA2948939C/en active Active
- 2011-06-29 KR KR1020127034453A patent/KR101489568B1/ko active Active
- 2011-06-29 CN CN201180067286.XA patent/CN103403183B/zh active Active
- 2011-06-29 PL PL11863253T patent/PL2561103T3/pl unknown
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- 2011-06-29 JP JP2014517369A patent/JP5659319B2/ja active Active
- 2011-06-29 US US13/641,080 patent/US9547748B2/en active Active
- 2011-06-29 MY MYPI2012005470A patent/MY172864A/en unknown
- 2011-06-29 CA CA2791118A patent/CA2791118C/en active Active
- 2011-06-29 SG SG2013049317A patent/SG191757A1/en unknown
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- 2011-06-29 AU AU2012261664A patent/AU2012261664B2/en active Active
- 2011-06-29 EP EP11863253.8A patent/EP2561103B1/en active Active
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- 2011-06-29 ES ES11863253.8T patent/ES2512448T3/es active Active
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2012
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Also Published As
| Publication number | Publication date |
|---|---|
| RU2589681C2 (ru) | 2016-07-10 |
| CA2948939C (en) | 2021-02-02 |
| EP2561103A1 (en) | 2013-02-27 |
| AU2012261664A1 (en) | 2013-01-17 |
| US20140099642A1 (en) | 2014-04-10 |
| CA2791118C (en) | 2019-05-07 |
| US9547748B2 (en) | 2017-01-17 |
| CN103403183A (zh) | 2013-11-20 |
| DK2561103T3 (da) | 2014-10-20 |
| CN103403183B (zh) | 2014-10-15 |
| HK1190758A1 (en) | 2014-07-11 |
| JP2014520509A (ja) | 2014-08-25 |
| AU2012261664B2 (en) | 2014-07-03 |
| JP5659319B2 (ja) | 2015-01-28 |
| WO2013000100A1 (en) | 2013-01-03 |
| KR101489568B1 (ko) | 2015-02-03 |
| SG191757A1 (en) | 2013-08-30 |
| MY172864A (en) | 2019-12-13 |
| BR112012033760A2 (pt) | 2018-02-27 |
| CA2948939A1 (en) | 2012-12-29 |
| EP2561103A4 (en) | 2013-08-07 |
| ZA201209583B (en) | 2014-01-29 |
| CA2791118A1 (en) | 2012-12-29 |
| EP2561103B1 (en) | 2014-08-27 |
| SI2561103T1 (sl) | 2014-11-28 |
| BR112012033760B1 (pt) | 2020-11-17 |
| RU2012158107A (ru) | 2015-08-10 |
| KR20140023847A (ko) | 2014-02-27 |
| PL2561103T3 (pl) | 2015-02-27 |
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