DK3247806T3 - Kombineret størrelses- og tællingsbaseret analyse af maternalt plasma til påvisning af føtale subkromosomale afvigelser - Google Patents

Kombineret størrelses- og tællingsbaseret analyse af maternalt plasma til påvisning af føtale subkromosomale afvigelser Download PDF

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DK3247806T3
DK3247806T3 DK16739780T DK16739780T DK3247806T3 DK 3247806 T3 DK3247806 T3 DK 3247806T3 DK 16739780 T DK16739780 T DK 16739780T DK 16739780 T DK16739780 T DK 16739780T DK 3247806 T3 DK3247806 T3 DK 3247806T3
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count
differences
based analysis
maternal plasma
combined size
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DK16739780T
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English (en)
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Yuk-Ming Dennis Lo
Rossa Wai Kwun Chiu
Kwan Chee Chan
Peiyong Jiang
Cheuk Yin Jandy Yu
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Univ Hong Kong Chinese
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    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10Ploidy or copy number detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B20/00ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/20Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • GPHYSICS
    • G16INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR SPECIFIC APPLICATION FIELDS
    • G16BBIOINFORMATICS, i.e. INFORMATION AND COMMUNICATION TECHNOLOGY [ICT] SPECIALLY ADAPTED FOR GENETIC OR PROTEIN-RELATED DATA PROCESSING IN COMPUTATIONAL MOLECULAR BIOLOGY
    • G16B40/00ICT 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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  • 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)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Medical Informatics (AREA)
  • Genetics & Genomics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Molecular Biology (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Pathology (AREA)
  • Bioethics (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Databases & Information Systems (AREA)
  • Data Mining & Analysis (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measurement Of The Respiration, Hearing Ability, Form, And Blood Characteristics Of Living Organisms (AREA)
DK16739780T 2015-01-23 2016-01-19 Kombineret størrelses- og tællingsbaseret analyse af maternalt plasma til påvisning af føtale subkromosomale afvigelser DK3247806T3 (da)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201562107227P 2015-01-23 2015-01-23
PCT/CN2016/071357 WO2016116033A1 (en) 2015-01-23 2016-01-19 Combined size-and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations

Publications (1)

Publication Number Publication Date
DK3247806T3 true DK3247806T3 (da) 2019-12-09

Family

ID=56416439

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DK16739780T DK3247806T3 (da) 2015-01-23 2016-01-19 Kombineret størrelses- og tællingsbaseret analyse af maternalt plasma til påvisning af føtale subkromosomale afvigelser

Country Status (10)

Country Link
US (2) US10319463B2 (da)
EP (3) EP3247806B1 (da)
CN (2) CN114141307A (da)
AU (2) AU2016208914B2 (da)
CA (1) CA2974239A1 (da)
CY (1) CY1124376T1 (da)
DK (1) DK3247806T3 (da)
HR (1) HRP20192226T1 (da)
TW (2) TWI746430B (da)
WO (1) WO2016116033A1 (da)

Families Citing this family (17)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
WO2016015058A2 (en) 2014-07-25 2016-01-28 University Of Washington Methods of determining tissues and/or cell types giving rise to cell-free dna, and methods of identifying a disease or disorder using same
US10364467B2 (en) * 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer
WO2016176847A1 (zh) * 2015-05-06 2016-11-10 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、装置和方法
CN115035949A (zh) 2015-09-22 2022-09-09 香港中文大学 通过母亲血浆dna的浅深度测序准确定量胎儿dna分数
US11512306B2 (en) 2016-10-19 2022-11-29 The Chinese University Of Hong Kong Gestational age assessment by methylation and size profiling of maternal plasma DNA
WO2018081130A1 (en) 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Methods and systems for tumor detection
RU2674700C2 (ru) * 2016-12-30 2018-12-12 Общество с ограниченной ответственностью "Научно-производственная фирма ДНК-Технология" (ООО "НПФ ДНК-Технология") Способ определения источника анеуплоидных клеток по крови беременной женщины
BR112019014208A2 (pt) 2017-01-11 2020-03-17 Quest Diagnostics Investments Llc Métodos para detectar diagnóstico falso-positivo de aneuploidia cromossômica em um feto e para detectar diagnóstico aneuploidiadiagnóstico de aneuploidia cromossômica falso-positiva em um feto.
TW202348802A (zh) * 2017-01-25 2023-12-16 香港中文大學 使用核酸片段之診斷應用
EP3658684B1 (en) 2017-07-26 2023-08-30 The Chinese University Of Hong Kong Enhancement of cancer screening using cell-free viral nucleic acids
US11168356B2 (en) 2017-11-02 2021-11-09 The Chinese University Of Hong Kong Using nucleic acid size range for noninvasive cancer detection
US11926821B2 (en) * 2018-10-22 2024-03-12 The Chinese University Of Hong Kong Cell-free DNA quality
EP3947717A4 (en) 2019-03-25 2022-12-28 The Chinese University Of Hong Kong DETERMINATION OF LINEAR AND ROUND SHAPES OF CIRCULATION NUCLEIC ACIDS
EP4068291A4 (en) * 2019-11-29 2023-12-20 GC Genome Corporation METHOD FOR DETECTING CHROMOSOMAL ANOMALIES USING ARTIFICIAL INTELLIGENCE
GB2605736B (en) * 2020-02-05 2023-05-24 Univ Hong Kong Chinese Molecular analyses using long cell-free fragments in pregnancy
WO2022140579A1 (en) * 2020-12-24 2022-06-30 Progenity, Inc. Methods of preparing assays, systems, and compositions for determining fetal fraction

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
KR20160113145A (ko) 2007-07-23 2016-09-28 더 차이니즈 유니버시티 오브 홍콩 핵산 서열 불균형의 결정
WO2009051842A2 (en) 2007-10-18 2009-04-23 The Johns Hopkins University Detection of cancer by measuring genomic copy number and strand length in cell-free dna
MX357692B (es) 2009-11-06 2018-07-19 Univ Hong Kong Chinese Analisis genomico a base de tamaño.
TWI719339B (zh) 2010-11-30 2021-02-21 香港中文大學 與癌症有關之基因或分子變異之檢測
JP6161607B2 (ja) 2011-07-26 2017-07-12 ベリナタ ヘルス インコーポレイテッド サンプルにおける異なる異数性の有無を決定する方法
US9892230B2 (en) 2012-03-08 2018-02-13 The Chinese University Of Hong Kong Size-based analysis of fetal or tumor DNA fraction in plasma
CN104640997B (zh) 2012-04-06 2017-12-19 香港中文大学 通过使用靶向大规模并行测序的等位基因比率分析进行的胎儿三体性的非侵入性产前诊断
US10643738B2 (en) 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
KR102385062B1 (ko) 2013-05-24 2022-04-12 시쿼넘, 인코포레이티드 유전적 변이의 비침습 평가를 위한 방법 및 프로세스
CN104232777B (zh) * 2014-09-19 2016-08-24 天津华大基因科技有限公司 同时确定胎儿核酸含量和染色体非整倍性的方法及装置
US10364467B2 (en) 2015-01-13 2019-07-30 The Chinese University Of Hong Kong Using size and number aberrations in plasma DNA for detecting cancer

Also Published As

Publication number Publication date
AU2016208914A1 (en) 2017-08-10
AU2016208914B2 (en) 2021-09-09
WO2016116033A1 (en) 2016-07-28
EP3247806A4 (en) 2018-06-20
US20190244679A1 (en) 2019-08-08
US10319463B2 (en) 2019-06-11
CA2974239A1 (en) 2016-07-28
AU2021282408A1 (en) 2021-12-23
EP3597777A1 (en) 2020-01-22
HRP20192226T1 (hr) 2020-02-21
EP4286536A3 (en) 2024-02-28
CN107208155B (zh) 2021-12-28
EP3247806B1 (en) 2019-09-25
TW202206605A (zh) 2022-02-16
EP4286536A2 (en) 2023-12-06
CN107208155A (zh) 2017-09-26
EP3597777B1 (en) 2023-10-11
EP3247806A1 (en) 2017-11-29
US20160217251A1 (en) 2016-07-28
TWI746430B (zh) 2021-11-21
CN114141307A (zh) 2022-03-04
TWI829031B (zh) 2024-01-11
CY1124376T1 (el) 2022-07-22
TW201641694A (zh) 2016-12-01

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