CN103459614B - 胎儿性染色体的非侵入性产前基因分型 - Google Patents
胎儿性染色体的非侵入性产前基因分型 Download PDFInfo
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- CN103459614B CN103459614B CN201280010828.4A CN201280010828A CN103459614B CN 103459614 B CN103459614 B CN 103459614B CN 201280010828 A CN201280010828 A CN 201280010828A CN 103459614 B CN103459614 B CN 103459614B
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- 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
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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
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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
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] 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
- G16B20/50—Mutagenesis
-
- 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
- G16B40/00—ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
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- 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
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- 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
- C12Q2600/158—Expression markers
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- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Physics & Mathematics (AREA)
- Chemical & Material Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Genetics & Genomics (AREA)
- Theoretical Computer Science (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Molecular Biology (AREA)
- Organic Chemistry (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Artificial Intelligence (AREA)
- Bioethics (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Data Mining & Analysis (AREA)
- Databases & Information Systems (AREA)
- Epidemiology (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Software Systems (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (5)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201161430032P | 2011-01-05 | 2011-01-05 | |
| US61/430,032 | 2011-01-05 | ||
| US201161475632P | 2011-04-14 | 2011-04-14 | |
| US61/475,632 | 2011-04-14 | ||
| PCT/IB2012/000015 WO2012093331A1 (en) | 2011-01-05 | 2012-01-05 | Noninvasive prenatal genotyping of fetal sex chromosomes |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| CN103459614A CN103459614A (zh) | 2013-12-18 |
| CN103459614B true CN103459614B (zh) | 2015-12-02 |
Family
ID=46457270
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| CN201280010828.4A Active CN103459614B (zh) | 2011-01-05 | 2012-01-05 | 胎儿性染色体的非侵入性产前基因分型 |
Country Status (7)
| Country | Link |
|---|---|
| US (3) | US10152568B2 (https=) |
| EP (3) | EP3680909B1 (https=) |
| JP (1) | JP6105485B2 (https=) |
| CN (1) | CN103459614B (https=) |
| AU (1) | AU2012204748C1 (https=) |
| CA (1) | CA2823618C (https=) |
| WO (1) | WO2012093331A1 (https=) |
Families Citing this family (18)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US10424394B2 (en) | 2011-10-06 | 2019-09-24 | 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 |
| JP6525894B2 (ja) * | 2013-02-28 | 2019-06-05 | ザ チャイニーズ ユニバーシティ オブ ホンコン | 超並列ｒｎａ配列決定による母体血漿のトランスクリプトーム解析 |
| HUE042654T2 (hu) | 2013-06-21 | 2019-07-29 | Sequenom Inc | Eljárás genetikai variációk nem-invazív megállapítására |
| US10612080B2 (en) * | 2014-09-22 | 2020-04-07 | Roche Molecular Systems, Inc. | Digital PCR for non-invasive prenatal testing |
| US10208339B2 (en) * | 2015-02-19 | 2019-02-19 | Takara Bio Usa, Inc. | Systems and methods for whole genome amplification |
| EP4063517B1 (en) | 2015-07-20 | 2026-01-07 | The Chinese University Of Hong Kong | Methylation pattern analysis of haplotypes in cell-free dna mixtures of maternal and fetal dna |
| EP3518974A4 (en) | 2016-09-29 | 2020-05-27 | Myriad Women's Health, Inc. | NON-INVASIVE PRENATAL SCREENING USING DYNAMIC ITERATIVE DEEP OPTIMIZATION |
| CN109996894A (zh) * | 2016-11-18 | 2019-07-09 | 香港中文大学 | 用于单基因疾病的基于通用单倍型的非侵入性产前测试 |
| 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 |
| AU2018355575A1 (en) | 2017-10-27 | 2020-05-21 | Juno Diagnostics, Inc. | Devices, systems and methods for ultra-low volume liquid biopsy |
| US12462935B2 (en) | 2018-03-30 | 2025-11-04 | Nucleix Ltd. | Deep learning-based methods, devices, and systems for prenatal testing |
| CN112639983B (zh) | 2018-06-29 | 2024-06-04 | 豪夫迈·罗氏有限公司 | 微卫星不稳定性检测 |
| JP7489920B2 (ja) * | 2018-10-31 | 2024-05-24 | 合同会社Ｈ．Ｕ．グループ中央研究所 | プログラム、学習モデル、情報処理装置、情報処理方法、情報表示方法および学習モデルの製造方法 |
| KR102261474B1 (ko) * | 2019-07-12 | 2021-06-07 | 주식회사 젠큐릭스 | 자동 경계화를 이용한 데이터 처리 방법 및 시스템 |
| CN110993024B (zh) * | 2019-12-20 | 2023-08-22 | 北京科迅生物技术有限公司 | 建立胎儿浓度校正模型的方法及装置与胎儿浓度定量的方法及装置 |
| CN117711488B (zh) * | 2023-11-29 | 2024-07-02 | 东莞博奥木华基因科技有限公司 | 一种基于长读长测序的基因单倍型检测方法及其应用 |
| WO2025234041A1 (ja) * | 2024-05-09 | 2025-11-13 | 株式会社日立ハイテク | 対象核酸を検出する方法、および対象核酸検出システム |
Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009013492A1 (en) * | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Determining a nucleic acid sequence imbalance |
Family Cites Families (11)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| GB9704444D0 (en) | 1997-03-04 | 1997-04-23 | Isis Innovation | Non-invasive prenatal diagnosis |
| US6440706B1 (en) | 1999-08-02 | 2002-08-27 | Johns Hopkins University | Digital amplification |
| JP2001269196A (ja) * | 2000-03-24 | 2001-10-02 | Hamamatsu Photonics Kk | 被検体核酸の定量方法、および被検体核酸の分子数の計数方法 |
| US20030180765A1 (en) | 2002-02-01 | 2003-09-25 | The Johns Hopkins University | Digital amplification for detection of mismatch repair deficient tumor cells |
| US6977162B2 (en) | 2002-03-01 | 2005-12-20 | Ravgen, Inc. | Rapid analysis of variations in a genome |
| US7727720B2 (en) | 2002-05-08 | 2010-06-01 | Ravgen, Inc. | Methods for detection of genetic disorders |
| EP2354253A3 (en) | 2003-09-05 | 2011-11-16 | Trustees of Boston University | Method for non-invasive prenatal diagnosis |
| US20050282213A1 (en) * | 2003-09-22 | 2005-12-22 | Trisogen Biotechnology Limited Partnership | Methods and kits useful for detecting an alteration in a locus copy number |
| TR201910868T4 (tr) | 2006-02-02 | 2019-08-21 | Univ Leland Stanford Junior | Dijital analizle invazif olmayan fetal genetik tarama. |
| EP4008795A1 (en) * | 2008-08-12 | 2022-06-08 | Stokes Bio Limited | Methods for digital pcr |
| EP2572003A4 (en) * | 2010-05-18 | 2016-01-13 | Natera Inc | METHOD FOR NONINVASIVE PRANATAL PLOIDIE ASSIGNMENT |
-
2012
- 2012-01-05 WO PCT/IB2012/000015 patent/WO2012093331A1/en not_active Ceased
- 2012-01-05 EP EP20151773.7A patent/EP3680909B1/en active Active
- 2012-01-05 EP EP21172847.2A patent/EP3901955B1/en active Active
- 2012-01-05 JP JP2013547929A patent/JP6105485B2/ja active Active
- 2012-01-05 US US13/978,358 patent/US10152568B2/en active Active
- 2012-01-05 CN CN201280010828.4A patent/CN103459614B/zh active Active
- 2012-01-05 EP EP12732095.0A patent/EP2661507B1/en active Active
- 2012-01-05 AU AU2012204748A patent/AU2012204748C1/en active Active
- 2012-01-05 CA CA2823618A patent/CA2823618C/en active Active
-
2018
- 2018-10-23 US US16/168,567 patent/US20190042693A1/en not_active Abandoned
-
2024
- 2024-05-06 US US18/656,503 patent/US20240420798A1/en active Pending
Patent Citations (1)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| WO2009013492A1 (en) * | 2007-07-23 | 2009-01-29 | The Chinese University Of Hong Kong | Determining a nucleic acid sequence imbalance |
Non-Patent Citations (3)
| Title |
|---|
| Application of fetal DNA in maternal plasma for noninvasive prenatal diagnosis;Chiu,R.W.K and LO,Y.M.D;《Expert Review of MOlecular Diagnostics》;20020131;第2卷(第1期);32-40 * |
| Methods to increase the percentage of free fetal DNA recovered from the maternal circulation;Ravinder Dhallan et al.;《JAMA》;20040303;第291卷(第9期);第1116页左栏第3段 * |
| Noninvasive prenatal diagnosis of hemophilia by microfluidics digital PCR analysis of maternal plasma DNA;Tsui,N.B.Y. et al.;《Blood》;20110331;第117卷(第13期);3684-3691 * |
Also Published As
| Publication number | Publication date |
|---|---|
| EP3680909A1 (en) | 2020-07-15 |
| CN103459614A (zh) | 2013-12-18 |
| AU2012204748A1 (en) | 2013-05-02 |
| EP3901955B1 (en) | 2024-10-09 |
| EP2661507B1 (en) | 2020-04-08 |
| JP2014507134A (ja) | 2014-03-27 |
| US10152568B2 (en) | 2018-12-11 |
| AU2012204748C1 (en) | 2021-12-23 |
| JP6105485B2 (ja) | 2017-04-05 |
| EP3901955A1 (en) | 2021-10-27 |
| US20190042693A1 (en) | 2019-02-07 |
| EP3680909B1 (en) | 2021-06-30 |
| WO2012093331A1 (en) | 2012-07-12 |
| EP2661507A1 (en) | 2013-11-13 |
| AU2012204748B2 (en) | 2015-09-24 |
| EP2661507A4 (en) | 2015-12-23 |
| US20240420798A1 (en) | 2024-12-19 |
| US20140019064A1 (en) | 2014-01-16 |
| CA2823618C (en) | 2022-05-24 |
| CA2823618A1 (en) | 2012-07-12 |
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| C06 | Publication | ||
| PB01 | Publication | ||
| C10 | Entry into substantive examination | ||
| SE01 | Entry into force of request for substantive examination | ||
| C14 | Grant of patent or utility model | ||
| GR01 | Patent grant |