CA2823618C - Noninvasive prenatal genotyping of fetal sex chromosomes - Google Patents

Noninvasive prenatal genotyping of fetal sex chromosomes Download PDF

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Publication number
CA2823618C
CA2823618C CA2823618A CA2823618A CA2823618C CA 2823618 C CA2823618 C CA 2823618C CA 2823618 A CA2823618 A CA 2823618A CA 2823618 A CA2823618 A CA 2823618A CA 2823618 C CA2823618 C CA 2823618C
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Prior art keywords
allele
nucleic acid
fetus
mutant
reactions
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CA2823618A
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English (en)
French (fr)
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CA2823618A1 (en
Inventor
Yuk Ming Dennis Lo
Wai Kwun Rossa Chiu
Kwan Chee Chan
Bo Yin Tsui
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Chinese University of Hong Kong
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Chinese University of Hong Kong
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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
    • 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
    • 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
    • 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
    • C12Q2600/158—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)
CA2823618A 2011-01-05 2012-01-05 Noninvasive prenatal genotyping of fetal sex chromosomes Active CA2823618C (en)

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
CA2823618A1 CA2823618A1 (en) 2012-07-12
CA2823618C true CA2823618C (en) 2022-05-24

Family

ID=46457270

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2823618A Active CA2823618C (en) 2011-01-05 2012-01-05 Noninvasive prenatal genotyping of fetal sex chromosomes

Country Status (7)

Country Link
US (3) US10152568B2 (enExample)
EP (3) EP3901955B1 (enExample)
JP (1) JP6105485B2 (enExample)
CN (1) CN103459614B (enExample)
AU (1) AU2012204748C1 (enExample)
CA (1) CA2823618C (enExample)
WO (1) WO2012093331A1 (enExample)

Families Citing this family (18)

* Cited by examiner, † Cited by third party
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
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
DK3011051T3 (en) 2013-06-21 2019-04-23 Sequenom Inc Method for non-invasive evaluation of genetic variations
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
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
MY208464A (en) * 2016-11-18 2025-05-11 Univ Hong Kong Chinese Universal haplotype-based noninvasive prenatal testing for single gene diseases
EP3998350B1 (en) 2017-03-17 2025-05-07 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
AU2018355575A1 (en) 2017-10-27 2020-05-21 Juno Diagnostics, Inc. Devices, systems and methods for ultra-low volume liquid biopsy
CA3095030A1 (en) 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
WO2020002621A2 (en) 2018-06-29 2020-01-02 F. Hoffmann-La Roche Ag Detection of microsatellite instability
WO2020090947A1 (ja) * 2018-10-31 2020-05-07 合同会社みらか中央研究所 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

Family Cites Families (12)

* Cited by examiner, † Cited by third party
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
AU2004270220B2 (en) 2003-09-05 2009-03-05 The Chinese University Of Hong Kong 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
WO2007092473A2 (en) 2006-02-02 2007-08-16 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US12054776B2 (en) 2007-07-23 2024-08-06 The Chinese University Of Hong Kong Diagnosing fetal chromosomal aneuploidy using massively parallel genomic sequencing
WO2010018465A2 (en) 2008-08-12 2010-02-18 Stokes Bio Limited Methods and devices for digital pcr
EP2854058A3 (en) * 2010-05-18 2015-10-28 Natera, Inc. Methods for non-invasive pre-natal ploidy calling

Also Published As

Publication number Publication date
US10152568B2 (en) 2018-12-11
US20190042693A1 (en) 2019-02-07
CA2823618A1 (en) 2012-07-12
EP2661507B1 (en) 2020-04-08
AU2012204748C1 (en) 2021-12-23
EP2661507A1 (en) 2013-11-13
EP2661507A4 (en) 2015-12-23
US20140019064A1 (en) 2014-01-16
EP3680909A1 (en) 2020-07-15
US20240420798A1 (en) 2024-12-19
AU2012204748B2 (en) 2015-09-24
EP3901955B1 (en) 2024-10-09
JP6105485B2 (ja) 2017-04-05
WO2012093331A1 (en) 2012-07-12
CN103459614A (zh) 2013-12-18
JP2014507134A (ja) 2014-03-27
CN103459614B (zh) 2015-12-02
AU2012204748A1 (en) 2013-05-02
EP3901955A1 (en) 2021-10-27
EP3680909B1 (en) 2021-06-30

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