HK1213024A1 - 母體血漿的無創性產前分子染色體核型分析 - Google Patents

母體血漿的無創性產前分子染色體核型分析

Info

Publication number
HK1213024A1
HK1213024A1 HK16101043.7A HK16101043A HK1213024A1 HK 1213024 A1 HK1213024 A1 HK 1213024A1 HK 16101043 A HK16101043 A HK 16101043A HK 1213024 A1 HK1213024 A1 HK 1213024A1
Authority
HK
Hong Kong
Prior art keywords
maternal plasma
noninvasive prenatal
molecular karyotyping
prenatal molecular
karyotyping
Prior art date
Application number
HK16101043.7A
Other languages
English (en)
Inventor
趙慧君
盧煜明
陳君賜
江培勇
余爍妍
Original Assignee
Univ Hong Kong Chinese
Priority date (The priority date is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the date listed.)
Filing date
Publication date
Application filed by Univ Hong Kong Chinese filed Critical Univ Hong Kong Chinese
Publication of HK1213024A1 publication Critical patent/HK1213024A1/zh

Links

Classifications

    • 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
    • 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
    • G16B30/00ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • G16B30/10Sequence alignment; Homology search
HK16101043.7A 2013-01-10 2016-01-29 母體血漿的無創性產前分子染色體核型分析 HK1213024A1 (zh)

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
HK1213024A1 true HK1213024A1 (zh) 2016-06-24

Family

ID=51061637

Family Applications (2)

Application Number Title Priority Date Filing Date
HK15111612.8A HK1210811A1 (zh) 2013-01-10 2015-11-25 母體血漿的無創性產前分子染色體核型分析
HK16101043.7A HK1213024A1 (zh) 2013-01-10 2016-01-29 母體血漿的無創性產前分子染色體核型分析

Family Applications Before (1)

Application Number Title Priority Date Filing Date
HK15111612.8A HK1210811A1 (zh) 2013-01-10 2015-11-25 母體血漿的無創性產前分子染色體核型分析

Country Status (18)

Country Link
US (2) US10643738B2 (zh)
EP (2) EP2943592B1 (zh)
JP (4) JP6251289B2 (zh)
KR (3) KR102113896B1 (zh)
CN (3) CN105051209A (zh)
AU (2) AU2014205038B2 (zh)
CA (1) CA2895206A1 (zh)
DK (1) DK2943592T3 (zh)
ES (1) ES2965274T3 (zh)
FI (1) FI2943592T3 (zh)
HK (2) HK1210811A1 (zh)
HR (1) HRP20231604T1 (zh)
LT (1) LT2943592T (zh)
PL (1) PL2943592T3 (zh)
PT (1) PT2943592T (zh)
RS (1) RS65021B1 (zh)
SG (2) SG11201504795PA (zh)
WO (1) WO2014107765A1 (zh)

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* 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
WO2017139801A1 (en) * 2016-02-12 2017-08-17 Regeneron Pharmaceuticals, Inc. Methods and systems for detection of abnormal karyotypes
SG11201811031QA (en) * 2016-06-10 2019-01-30 Eone Diagnomics Genome Center Co Ltd Multiple z-score-based non-invasive prenatal testing method and apparatus
CN110770341A (zh) * 2017-01-11 2020-02-07 奎斯特诊断投资有限责任公司 非整倍性无创产前筛查方法
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
US11430543B2 (en) * 2017-08-04 2022-08-30 Billiontoone, Inc. Sequencing output determination and analysis with target-associated molecules in quantification associated with biological targets
US11519024B2 (en) 2017-08-04 2022-12-06 Billiontoone, Inc. Homologous genomic regions for characterization associated with biological targets
CN111051511A (zh) 2017-08-04 2020-04-21 十亿至一公司 用于与生物靶相关的表征的靶相关分子
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
EP3735470B1 (en) 2018-01-05 2023-11-22 BillionToOne, Inc. Quality control templates for ensuring validity of sequencing-based assays
KR102287096B1 (ko) * 2019-01-04 2021-08-09 테라젠지놈케어 주식회사 모체 시료 중 태아 분획을 결정하는 방법
US20220170010A1 (en) 2020-12-02 2022-06-02 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
US7888017B2 (en) 2006-02-02 2011-02-15 The Board Of Trustees Of The Leland Stanford Junior University Non-invasive fetal genetic screening by digital analysis
US20100112590A1 (en) 2007-07-23 2010-05-06 The Chinese University Of Hong Kong Diagnosing Fetal Chromosomal Aneuploidy Using Genomic Sequencing With Enrichment
PT2557517T (pt) * 2007-07-23 2023-01-04 Univ Hong Kong Chinese Determinação de um desequilíbrio de sequências de ácido nucleico
SI2334812T1 (sl) 2008-09-20 2017-05-31 The Board of Trustees of the Leland Stanford Junior University Office of the General Counsel Building 170 Neinvazivna diagnoza fetalne anevploidije s sekvenciranjem
RS63944B1 (sr) 2009-11-05 2023-02-28 Univ Hong Kong Chinese Analiza genoma fetusa iz biološkog uzorka majke
US20120270739A1 (en) * 2010-01-19 2012-10-25 Verinata Health, Inc. Method for sample analysis of aneuploidies in maternal samples
US20120237928A1 (en) 2010-10-26 2012-09-20 Verinata Health, Inc. Method for determining copy number variations
EP2366031B1 (en) * 2010-01-19 2015-01-21 Verinata Health, Inc Sequencing methods in prenatal diagnoses
KR102040307B1 (ko) 2010-11-30 2019-11-27 더 차이니즈 유니버시티 오브 홍콩 암과 연관된 유전적 또는 분자적 이상들의 검출
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
CN114724626A (zh) 2022-07-08
US20140195164A1 (en) 2014-07-10
JP2020058393A (ja) 2020-04-16
SG11201504795PA (en) 2015-07-30
AU2017228558A1 (en) 2017-10-05
WO2014107765A1 (en) 2014-07-17
ES2965274T3 (es) 2024-04-11
CN105051209A (zh) 2015-11-11
DK2943592T3 (da) 2024-01-02
JP2023014310A (ja) 2023-01-26
EP4280219A2 (en) 2023-11-22
JP6725481B2 (ja) 2020-07-22
FI2943592T3 (fi) 2023-12-18
HK1210811A1 (zh) 2016-05-06
KR20150105314A (ko) 2015-09-16
JP2018075013A (ja) 2018-05-17
LT2943592T (lt) 2024-01-10
PL2943592T3 (pl) 2024-03-11
US20200176075A1 (en) 2020-06-04
JP2016511632A (ja) 2016-04-21
KR20190019219A (ko) 2019-02-26
HRP20231604T1 (hr) 2024-03-15
KR102199322B1 (ko) 2021-01-06
KR102113896B1 (ko) 2020-05-21
US11923046B2 (en) 2024-03-05
AU2017228558B2 (en) 2019-05-30
SG10201807047XA (en) 2018-09-27
CN115132272A (zh) 2022-09-30
AU2017228558C1 (en) 2019-10-03
PT2943592T (pt) 2023-12-22
EP2943592A4 (en) 2016-08-31
AU2014205038B2 (en) 2017-07-27
JP6251289B2 (ja) 2017-12-20
EP4280219A3 (en) 2024-02-21
RS65021B1 (sr) 2024-01-31
AU2014205038A8 (en) 2015-08-13
AU2014205038A1 (en) 2015-07-16
EP2943592A1 (en) 2015-11-18
KR20190122909A (ko) 2019-10-30
KR102038125B1 (ko) 2019-10-29
EP2943592B1 (en) 2023-11-08
CA2895206A1 (en) 2014-07-17
US10643738B2 (en) 2020-05-05

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