TWI611186B - 多重妊娠之分子檢驗 - Google Patents

多重妊娠之分子檢驗 Download PDF

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Publication number
TWI611186B
TWI611186B TW101106446A TW101106446A TWI611186B TW I611186 B TWI611186 B TW I611186B TW 101106446 A TW101106446 A TW 101106446A TW 101106446 A TW101106446 A TW 101106446A TW I611186 B TWI611186 B TW I611186B
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Taiwan
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locus
dual
fetuses
loci
parent
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TW101106446A
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English (en)
Chinese (zh)
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TW201243326A (en
Inventor
Yuk Ming Dennis Lo
盧煜明
Wai Kwun Rossa Chiu
趙慧君
Kwan Chee Chan
陳君賜
Tak Yeung Leung
梁德楊
Peiyong Jiang
江培勇
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The Chinese University Of Hong Kong
香港中文大學
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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
    • 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
    • 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
    • C12Q1/6881—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for tissue or cell typing, e.g. human leukocyte antigen [HLA] probes
    • 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
    • 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
    • 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
    • G16B40/30—Unsupervised data analysis
    • 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
    • C12Q2600/154—Methylation markers
    • 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
    • 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
    • C12Q2600/172—Haplotypes
    • 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
    • G16B20/40—Population genetics; Linkage disequilibrium

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  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Chemical & Material Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Medical Informatics (AREA)
  • Organic Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Molecular Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Theoretical Computer Science (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Data Mining & Analysis (AREA)
  • General Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Public Health (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Epidemiology (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Evolutionary Computation (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • Cell Biology (AREA)
  • Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Addition Polymer Or Copolymer, Post-Treatments, Or Chemical Modifications (AREA)
TW101106446A 2011-02-24 2012-02-24 多重妊娠之分子檢驗 TWI611186B (zh)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201161446256P 2011-02-24 2011-02-24
US61/446,256 2011-02-24

Publications (2)

Publication Number Publication Date
TW201243326A TW201243326A (en) 2012-11-01
TWI611186B true TWI611186B (zh) 2018-01-11

Family

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Family Applications (1)

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TW101106446A TWI611186B (zh) 2011-02-24 2012-02-24 多重妊娠之分子檢驗

Country Status (8)

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US (2) US10900080B2 (enExample)
EP (5) EP3202921B1 (enExample)
JP (2) JP5837622B2 (enExample)
CN (2) CN106011237B (enExample)
AU (1) AU2012311262C1 (enExample)
CA (3) CA3160848C (enExample)
TW (1) TWI611186B (enExample)
WO (1) WO2013041921A1 (enExample)

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US20240158855A1 (en) 2010-05-18 2024-05-16 Natera, Inc. Methods for simultaneous amplification of target loci
US10316362B2 (en) 2010-05-18 2019-06-11 Natera, Inc. Methods for simultaneous amplification of target loci
US12545960B2 (en) 2010-05-18 2026-02-10 Natera, Inc. Methods for simultaneous amplification of target loci
US12655483B2 (en) 2010-05-18 2026-06-16 Natera, Inc. Methods for simultaneous amplification of target loci
US11322224B2 (en) * 2010-05-18 2022-05-03 Natera, Inc. Methods for non-invasive prenatal ploidy calling
AU2011348100B2 (en) 2010-12-22 2016-08-25 Natera, Inc. Methods for non-invasive prenatal paternity testing
EP3202921B1 (en) 2011-02-24 2019-02-13 The Chinese University of Hong Kong Molecular testing of multiple pregnancies
US10424394B2 (en) 2011-10-06 2019-09-24 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP2015517317A (ja) * 2012-05-23 2015-06-22 ビージーアイ ダイアグノーシス カンパニー リミテッドBgi Diagnosis Co., Ltd. 双子の類型を鑑定する方法とシステム
US20140100126A1 (en) 2012-08-17 2014-04-10 Natera, Inc. Method for Non-Invasive Prenatal Testing Using Parental Mosaicism Data
US10482994B2 (en) 2012-10-04 2019-11-19 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
TWI489305B (zh) * 2012-11-21 2015-06-21 Bgi Diagnosis Co Ltd 對胎兒遺傳異常的無創性檢測
ES2670544T3 (es) * 2013-02-28 2018-05-30 The Chinese University Of Hong Kong Análisis de transcriptoma de plasma materno por secuenciación masiva en paralelo de ARN
CN105121660B (zh) * 2013-03-15 2018-09-28 香港中文大学 确定多胎妊娠的胎儿基因组
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
US12492429B2 (en) 2014-04-21 2025-12-09 Natera, Inc. Detecting mutations and ploidy in chromosomal segments
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US20180173845A1 (en) 2014-06-05 2018-06-21 Natera, Inc. Systems and Methods for Detection of Aneuploidy
WO2017012544A1 (en) * 2015-07-20 2017-01-26 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
CA3037366A1 (en) 2016-09-29 2018-04-05 Myriad Women's Health, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
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US11441174B2 (en) 2017-06-02 2022-09-13 Affymetrix, Inc. Array-based methods for analysing mixed samples using differently labelled allele-specific probes
WO2018223057A1 (en) * 2017-06-02 2018-12-06 Affymetrix, Inc. Array-based methods for analysing mixed samples using different allele-specific labels, in particular for detection of fetal aneuploidies
WO2018223055A1 (en) * 2017-06-02 2018-12-06 Affymetrix, Inc. Array-based methods for analysing mixed samples using differently labelled allele-specific probes
US11990208B2 (en) 2017-06-20 2024-05-21 Illumina, Inc. Methods for accurate computational decomposition of DNA mixtures from contributors of unknown genotypes
DK3781714T3 (da) 2018-04-14 2026-03-30 Natera Inc Fremgangsmåder til cancerpåvisning og -overvågning ved personlig påvisning af cirkulerende tumor-dna
US12234509B2 (en) 2018-07-03 2025-02-25 Natera, Inc. Methods for detection of donor-derived cell-free DNA
CN112634986B (zh) * 2019-09-24 2024-07-26 厦门赛尔吉亚医学检验所有限公司 一种基于孕妇外周血对双胞胎合子性质的无创鉴定方法
KR102162831B1 (ko) 2019-12-26 2020-10-08 주식회사 마크로젠 혼합 모델을 이용한 쌍태아의 접합성 타입 결정 방법 및 분석 장치
US20230227897A1 (en) * 2020-12-16 2023-07-20 Seedna Inc. Method for calculating the fidelity of the signal of polymorphic genetic loci
CN114214425B (zh) * 2020-12-23 2024-01-19 上海亿康医学检验所有限公司 一种鉴定核酸样本的亲本倾向性的方法或装置
CN113981062B (zh) * 2021-10-14 2024-02-20 武汉蓝沙医学检验实验室有限公司 以非生父和母亲dna评估胎儿dna浓度的方法及应用
WO2023120783A1 (ko) * 2021-12-24 2023-06-29 주식회사 마크로젠 혼합 모델을 이용한 쌍태아의 접합성 타입 결정 방법 및 분석 장치
CN116052766B (zh) * 2023-01-09 2026-01-02 北京交通大学 一种染色体纯合区域的检测方法、系统及电子设备
CN120412715B (zh) * 2025-03-17 2025-11-28 上海蓝沙生物科技有限公司 一种通过多态性位点连锁区域块评估孕期母本游离血液中胎儿DNA浓度(cffDNA)的方法

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US20080070792A1 (en) * 2006-06-14 2008-03-20 Roland Stoughton Use of highly parallel snp genotyping for fetal diagnosis
WO2010075459A1 (en) * 2008-12-22 2010-07-01 Celula, Inc. Methods and genotyping panels for detecting alleles, genomes, and transcriptomes

Also Published As

Publication number Publication date
CA3160848C (en) 2025-07-08
US10900080B2 (en) 2021-01-26
JP2016034282A (ja) 2016-03-17
AU2012311262A1 (en) 2013-05-02
AU2012311262C1 (en) 2017-06-29
CA3252077A1 (en) 2025-03-20
CN103492589B (zh) 2016-06-15
EP3202921B1 (en) 2019-02-13
EP3489368A1 (en) 2019-05-29
EP2678451A1 (en) 2014-01-01
CN106011237A (zh) 2016-10-12
EP2860265B1 (en) 2016-10-26
JP2014507158A (ja) 2014-03-27
CA2827873C (en) 2022-08-16
EP2678451A4 (en) 2014-10-22
US20210095340A1 (en) 2021-04-01
AU2012311262B2 (en) 2014-10-09
EP2682887A2 (en) 2014-01-08
CA2827873A1 (en) 2013-03-28
EP2860265A1 (en) 2015-04-15
EP3489368B1 (en) 2020-09-09
JP6068598B2 (ja) 2017-01-25
TW201243326A (en) 2012-11-01
JP5837622B2 (ja) 2015-12-24
EP2678451B1 (en) 2017-04-26
WO2013041921A1 (en) 2013-03-28
CN106011237B (zh) 2019-12-13
CA3160848A1 (en) 2013-03-28
CN103492589A (zh) 2014-01-01
US20130059733A1 (en) 2013-03-07
EP3202921A1 (en) 2017-08-09
HK1203567A1 (en) 2015-10-30

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