AU2012204748C1 - Noninvasive prenatal genotyping of fetal sex chromosomes - Google Patents

Noninvasive prenatal genotyping of fetal sex chromosomes Download PDF

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Publication number
AU2012204748C1
AU2012204748C1 AU2012204748A AU2012204748A AU2012204748C1 AU 2012204748 C1 AU2012204748 C1 AU 2012204748C1 AU 2012204748 A AU2012204748 A AU 2012204748A AU 2012204748 A AU2012204748 A AU 2012204748A AU 2012204748 C1 AU2012204748 C1 AU 2012204748C1
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allele
fetus
mutant
nucleic acid
amount
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AU2012204748A1 (en
AU2012204748B2 (en
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Kwan Chee Chan
Wai Kwun Rossa Chiu
Yuk Ming Dennis Lo
Bo Yin Tsui
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Chinese University of Hong Kong CUHK
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Chinese University of Hong Kong CUHK
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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)
AU2012204748A 2011-01-05 2012-01-05 Noninvasive prenatal genotyping of fetal sex chromosomes Active AU2012204748C1 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2015227510A AU2015227510B2 (en) 2011-01-05 2015-09-18 Noninvasive prenatal genotyping of fetal sex chromosomes

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

Related Child Applications (1)

Application Number Title Priority Date Filing Date
AU2015227510A Division AU2015227510B2 (en) 2011-01-05 2015-09-18 Noninvasive prenatal genotyping of fetal sex chromosomes

Publications (3)

Publication Number Publication Date
AU2012204748A1 AU2012204748A1 (en) 2013-05-02
AU2012204748B2 AU2012204748B2 (en) 2015-09-24
AU2012204748C1 true AU2012204748C1 (en) 2021-12-23

Family

ID=46457270

Family Applications (1)

Application Number Title Priority Date Filing Date
AU2012204748A Active AU2012204748C1 (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) EP3680909B1 (enExample)
JP (1) JP6105485B2 (enExample)
CN (1) CN103459614B (enExample)
AU (1) AU2012204748C1 (enExample)
CA (1) CA2823618C (enExample)
WO (1) WO2012093331A1 (enExample)

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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
EA202190075A3 (ru) * 2013-02-28 2021-07-30 Те Чайниз Юниверсити Ов Гонконг Анализ транскриптома материнской плазмы с применением массивного параллельного секвенирования рнк
EP3011051B1 (en) 2013-06-21 2019-01-30 Sequenom, Inc. Method for non-invasive assessment 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
EP3739061B1 (en) * 2015-07-20 2022-03-23 The Chinese University Of Hong Kong Methylation pattern analysis of haplotypes in tissues in dna mixture
WO2018064486A1 (en) 2016-09-29 2018-04-05 Counsyl, Inc. Noninvasive prenatal screening using dynamic iterative depth optimization
WO2018090991A1 (en) * 2016-11-18 2018-05-24 The Chinese University Of Hong Kong Universal haplotype-based noninvasive prenatal testing for single gene diseases
EP3596233B1 (en) 2017-03-17 2022-05-18 Sequenom, Inc. Methods and processes for assessment of genetic mosaicism
TWI833715B (zh) 2017-10-27 2024-03-01 美商奇諾診療公司 用於超低體積液體生物檢體之裝置、系統及方法
CA3095030A1 (en) 2018-03-30 2019-10-03 Juno Diagnostics, Inc. Deep learning-based methods, devices, and systems for prenatal testing
EP3815092A2 (en) 2018-06-29 2021-05-05 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

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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
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
EP3892736A1 (en) * 2007-07-23 2021-10-13 The Chinese University of Hong Kong Determining a nucleic acid sequence imbalance
PT3663411T (pt) 2008-08-12 2022-01-14 Stokes Bio Ltd Métodos para pcr digital
CA3207599A1 (en) * 2010-05-18 2011-11-24 Natera, Inc. Methods for non-invasive prenatal ploidy calling

Non-Patent Citations (1)

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Title
LUN, F. M. F. et al., Proceedings of the National Academy of Sciences of the USA, 16 December 2008, Vol. 105, No. 50, pages 19920-19925 *

Also Published As

Publication number Publication date
AU2012204748A1 (en) 2013-05-02
EP2661507A4 (en) 2015-12-23
EP3901955A1 (en) 2021-10-27
EP2661507B1 (en) 2020-04-08
CN103459614A (zh) 2013-12-18
EP3901955B1 (en) 2024-10-09
US20190042693A1 (en) 2019-02-07
CA2823618A1 (en) 2012-07-12
EP2661507A1 (en) 2013-11-13
JP6105485B2 (ja) 2017-04-05
WO2012093331A1 (en) 2012-07-12
CA2823618C (en) 2022-05-24
US20240420798A1 (en) 2024-12-19
EP3680909A1 (en) 2020-07-15
CN103459614B (zh) 2015-12-02
US20140019064A1 (en) 2014-01-16
AU2012204748B2 (en) 2015-09-24
JP2014507134A (ja) 2014-03-27
US10152568B2 (en) 2018-12-11
EP3680909B1 (en) 2021-06-30

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DA3 Amendments made section 104

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FGA Letters patent sealed or granted (standard patent)
DA2 Applications for amendment section 104

Free format text: THE NATURE OF THE AMENDMENT IS AS SHOWN IN THE STATEMENT(S) FILED 12 MAY 2021

DA3 Amendments made section 104

Free format text: THE NATURE OF THE AMENDMENT IS AS SHOWN IN THE STATEMENT FILED 12 MAY 2021