DK2943592T3 - Ikke-invasiv prænatal molekylær karyotype fra moderplasma - Google Patents

Ikke-invasiv prænatal molekylær karyotype fra moderplasma Download PDF

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Publication number
DK2943592T3
DK2943592T3 DK14737956.4T DK14737956T DK2943592T3 DK 2943592 T3 DK2943592 T3 DK 2943592T3 DK 14737956 T DK14737956 T DK 14737956T DK 2943592 T3 DK2943592 T3 DK 2943592T3
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Denmark
Prior art keywords
maternal plasma
invasive prenatal
molecular karyotype
prenatal molecular
karyotype
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DK14737956.4T
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English (en)
Inventor
Wai Kwun Rossa Chiu
Yuk Ming Dennis Lo
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
    • 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
    • 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
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • 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
    • G16B30/10Sequence alignment; Homology search

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  • Life Sciences & Earth Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Health & Medical Sciences (AREA)
  • Physics & Mathematics (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Biotechnology (AREA)
  • General Health & Medical Sciences (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Medical Informatics (AREA)
  • Theoretical Computer Science (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Organic Chemistry (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Microbiology (AREA)
  • Immunology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (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)
DK14737956.4T 2013-01-10 2014-01-09 Ikke-invasiv prænatal molekylær karyotype fra moderplasma DK2943592T3 (da)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201361751213P 2013-01-10 2013-01-10
US13/837,776 US10643738B2 (en) 2013-01-10 2013-03-15 Noninvasive prenatal molecular karyotyping from maternal plasma
PCT/AU2014/000012 WO2014107765A1 (en) 2013-01-10 2014-01-09 Noninvasive prenatal molecular karyotyping from maternal plasma

Publications (1)

Publication Number Publication Date
DK2943592T3 true DK2943592T3 (da) 2024-01-02

Family

ID=51061637

Family Applications (1)

Application Number Title Priority Date Filing Date
DK14737956.4T DK2943592T3 (da) 2013-01-10 2014-01-09 Ikke-invasiv prænatal molekylær karyotype fra moderplasma

Country Status (19)

Country Link
US (3) US10643738B2 (da)
EP (2) EP2943592B1 (da)
JP (4) JP6251289B2 (da)
KR (3) KR102038125B1 (da)
CN (3) CN114724626A (da)
AU (2) AU2014205038B2 (da)
CA (1) CA2895206A1 (da)
DK (1) DK2943592T3 (da)
ES (1) ES2965274T3 (da)
FI (1) FI2943592T3 (da)
HK (2) HK1210811A1 (da)
HR (1) HRP20231604T1 (da)
HU (1) HUE064628T2 (da)
LT (1) LT2943592T (da)
PL (1) PL2943592T3 (da)
PT (1) PT2943592T (da)
RS (1) RS65021B1 (da)
SG (2) SG11201504795PA (da)
WO (1) WO2014107765A1 (da)

Families Citing this family (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma
US10319463B2 (en) 2015-01-23 2019-06-11 The Chinese University Of Hong Kong Combined size- and count-based analysis of maternal plasma for detection of fetal subchromosomal aberrations
EP3347466B1 (en) 2015-09-08 2024-01-03 Cold Spring Harbor Laboratory Genetic copy number determination using high throughput multiplex sequencing of smashed nucleotides
AU2017218149B2 (en) * 2016-02-12 2020-09-03 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
WO2017213470A1 (ko) * 2016-06-10 2017-12-14 이원다이애그노믹스(주) 다중 z-score에 기반한 비침습적 산전 검사 방법 및 장치
CA3049442A1 (en) * 2017-01-11 2018-07-19 Quest Diagnostics Investments Llc Method for non-invasive prenatal screening for aneuploidy
CN106778069B (zh) * 2017-02-17 2020-02-14 广州精科医学检验所有限公司 确定胎儿染色体中微缺失微重复的方法及设备
CN109280702A (zh) * 2017-07-21 2019-01-29 深圳华大基因研究院 确定个体染色体结构异常的方法和系统
US11646100B2 (en) 2017-08-04 2023-05-09 Billiontoone, Inc. Target-associated molecules for characterization associated with biological targets
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
BR112020002260A2 (pt) * 2017-08-04 2020-09-08 Billiontoone, Inc. método para facilitar o diagnóstico pré-natal de um distúrbio genético a partir de uma amostra materna associada a uma gestante, método para facilitação de caracterização de uma condição médica a partir de uma amostra compreendendo moléculas alvo e método para quantificação de alvo biológico a partir de uma amostra compreendendo moléculas alvo
CN107992719B (zh) * 2017-11-23 2021-08-06 南方医科大学 一种基于高通量测序的膀胱癌检测试剂盒
PT3735470T (pt) 2018-01-05 2024-01-31 Billiontoone Inc Modelos de controlo de qualidade para garantir a validade dos ensaios baseados em sequenciamento
KR102287096B1 (ko) * 2019-01-04 2021-08-09 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
EP4256565A1 (en) 2020-12-02 2023-10-11 Illumina Software, Inc. System and method for detection of genetic alterations
CN113699225B (zh) * 2021-08-06 2023-11-21 菁良科技(深圳)有限公司 无创产前筛查微缺失或微重复非配对参考品及其制备和应用

Family Cites Families (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
US20020164816A1 (en) 2001-04-06 2002-11-07 California Institute Of Technology Microfluidic sample separation device
TR201910868T4 (tr) 2006-02-02 2019-08-21 Univ Leland Stanford Junior Dijital analizle invazif olmayan fetal genetik tarama.
CA3176319A1 (en) * 2007-07-23 2009-01-29 The Chinese University Of Hong Kong Analyzing tumor dna in a cell-free sample
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
EP2334812B1 (en) 2008-09-20 2016-12-21 The Board of Trustees of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
HUE034854T2 (en) 2009-11-05 2018-03-28 Univ Hong Kong Chinese Fetal genomic analysis from maternal biological samples
US20120270739A1 (en) * 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
EP2848703A1 (en) * 2010-01-19 2015-03-18 Verinata Health, Inc Simultaneous determination of aneuploidy and fetal fraction
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
NZ611599A (en) 2010-11-30 2015-05-29 Univ Hong Kong Chinese Detection of genetic or molecular aberrations associated with cancer
US10643738B2 (en) * 2013-01-10 2020-05-05 The Chinese University Of Hong Kong Noninvasive prenatal molecular karyotyping from maternal plasma

Also Published As

Publication number Publication date
US10643738B2 (en) 2020-05-05
US20240170094A1 (en) 2024-05-23
AU2017228558A1 (en) 2017-10-05
EP2943592B1 (en) 2023-11-08
HRP20231604T1 (hr) 2024-03-15
JP2016511632A (ja) 2016-04-21
US20200176075A1 (en) 2020-06-04
FI2943592T3 (fi) 2023-12-18
WO2014107765A1 (en) 2014-07-17
JP6251289B2 (ja) 2017-12-20
SG11201504795PA (en) 2015-07-30
KR20190019219A (ko) 2019-02-26
HK1213024A1 (zh) 2016-06-24
CN115132272A (zh) 2022-09-30
EP4280219A3 (en) 2024-02-21
JP2018075013A (ja) 2018-05-17
KR20150105314A (ko) 2015-09-16
JP2020058393A (ja) 2020-04-16
SG10201807047XA (en) 2018-09-27
HUE064628T2 (hu) 2024-04-28
AU2014205038A8 (en) 2015-08-13
LT2943592T (lt) 2024-01-10
AU2017228558B2 (en) 2019-05-30
KR20190122909A (ko) 2019-10-30
CN105051209A (zh) 2015-11-11
US11923046B2 (en) 2024-03-05
CA2895206A1 (en) 2014-07-17
KR102199322B1 (ko) 2021-01-06
JP6725481B2 (ja) 2020-07-22
ES2965274T3 (es) 2024-04-11
HK1210811A1 (en) 2016-05-06
AU2014205038A1 (en) 2015-07-16
US20140195164A1 (en) 2014-07-10
KR102038125B1 (ko) 2019-10-29
EP2943592A4 (en) 2016-08-31
EP2943592A1 (en) 2015-11-18
PL2943592T3 (pl) 2024-03-11
AU2014205038B2 (en) 2017-07-27
PT2943592T (pt) 2023-12-22
KR102113896B1 (ko) 2020-05-21
AU2017228558C1 (en) 2019-10-03
JP2023014310A (ja) 2023-01-26
RS65021B1 (sr) 2024-01-31
EP4280219A2 (en) 2023-11-22
CN114724626A (zh) 2022-07-08

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