CY1124376T1 - Συνδυαστικη αναλυση μεγεθους και καταμετρησης στο μητρικο πλασμα για την ανιχνευση εμβρυϊκων υποχρωμοσωμικων ανωμαλιων - Google Patents

Συνδυαστικη αναλυση μεγεθους και καταμετρησης στο μητρικο πλασμα για την ανιχνευση εμβρυϊκων υποχρωμοσωμικων ανωμαλιων

Info

Publication number
CY1124376T1
CY1124376T1 CY20191101221T CY191101221T CY1124376T1 CY 1124376 T1 CY1124376 T1 CY 1124376T1 CY 20191101221 T CY20191101221 T CY 20191101221T CY 191101221 T CY191101221 T CY 191101221T CY 1124376 T1 CY1124376 T1 CY 1124376T1
Authority
CY
Cyprus
Prior art keywords
fetal
hypochromosomic
abnormalities
detection
quantitative analysis
Prior art date
Application number
CY20191101221T
Other languages
English (en)
Inventor
Yuk-Ming Dennis Lo
Rossa Wai Kwun Chiu
Kwan Chee Chan
Cheuk Yin Jandy YU
Peiyong Jiang
Original Assignee
The Chinese University Of Hong Kong Office of Research and Knowledge Transfer Services
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 The Chinese University Of Hong Kong Office of Research and Knowledge Transfer Services filed Critical The Chinese University Of Hong Kong Office of Research and Knowledge Transfer Services
Publication of CY1124376T1 publication Critical patent/CY1124376T1/el

Links

Classifications

    • 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
    • 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
    • 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
    • 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

Landscapes

  • 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)

Abstract

Μια ανωμαλία σε ένα εμβρυϊκό γονιδίωμα μπορεί να ταυτοποιηθεί αναλύοντας ένα δείγμα εμβρυϊκού και μητρικού DNA. Οι ταξινομήσεις για το εάν μια ανωμαλία (ενίσχυση ή διαγραφή) υπάρχει σε μια υποχρωμοσωμική περιοχή καθορίζονται με χρήση μεθόδων με βάση την καταμέτρηση και με βάση το μέγεθος. Η ταξινόμηση καταμέτρησης και η ταξινόμηση μεγέθους μπορούν να χρησιμοποιηθούν σε συνδυασμό για να καθοριστεί εάν μόνο το έμβρυο ή μόνο ην μητέρα, ή και οι δύο, φέρουν την ανωμαλία στην υποχρωμοσωμική περιοχή, αποφεύγοντας έτσι τα ψευδώς θετικά όταν η μητέρα φέρει την ανωμαλία ενώ το έμβρυο όχι.
CY20191101221T 2015-01-23 2019-11-21 Συνδυαστικη αναλυση μεγεθους και καταμετρησης στο μητρικο πλασμα για την ανιχνευση εμβρυϊκων υποχρωμοσωμικων ανωμαλιων CY1124376T1 (el)

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
CY1124376T1 true CY1124376T1 (el) 2022-07-22

Family

ID=56416439

Family Applications (1)

Application Number Title Priority Date Filing Date
CY20191101221T CY1124376T1 (el) 2015-01-23 2019-11-21 Συνδυαστικη αναλυση μεγεθους και καταμετρησης στο μητρικο πλασμα για την ανιχνευση εμβρυϊκων υποχρωμοσωμικων ανωμαλιων

Country Status (10)

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

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
DK3247806T3 (da) 2019-12-09
US20160217251A1 (en) 2016-07-28
TWI746430B (zh) 2021-11-21
CN114141307A (zh) 2022-03-04
TWI829031B (zh) 2024-01-11
TW201641694A (zh) 2016-12-01

Similar Documents

Publication Publication Date Title
CY1124376T1 (el) Συνδυαστικη αναλυση μεγεθους και καταμετρησης στο μητρικο πλασμα για την ανιχνευση εμβρυϊκων υποχρωμοσωμικων ανωμαλιων
CY1121828T1 (el) Αναλυση βασει μεγεθους θραυσματος εμβρυϊκου dna στο μητρικο πλασμα
CY1121772T1 (el) Χρησιμοποιηση μεγεθους θραυσματων του ελευθερου κυτταρων dna για προσδιορισμο παραλλαγων αριθμου αντιγραφων
CY1121741T1 (el) Χρηση του μεγεθους θραυσματων εξωκυτταριου dna για τον προσδιορισμο παραλλαγης αριθμου αντιγραφων
MY195527A (en) Methods And Systems For Tumor Detection
GB2534067A (en) Methods and systems for genomic analysis
BR112016027848A2 (pt) Método para avaliação de número de cópias de uma sequência de interesse, meio legível por máquina não transitória, e, sistema para avaliação de número de cópias de uma sequência de interesse
MX366275B (es) Metodos para detectar y medir la agregacion.
MX2016016902A (es) Metodos para analizar acidos nucleicos de celulas individuales o poblaciones de celulas.
MX2016013255A (es) Metodos y composiciones para detectar proteinas mal plegadas.
MA39951A (fr) Détection de l'adn provenant d'un type spécifique de cellule et méthodes associées
BR112017008082A2 (pt) composições e métodos para detectar um vírus de rna
BR112018008532A2 (pt) detecção de aneuploidias cromossômicas do feto usando regiões de dna que são metiladas de forma diferenciada entre o feto e a mulher grávida
AR105618A1 (es) Metilación del promotor del ligando al receptor de muerte programada (pd-l1) en cáncer
JP2014144959A5 (el)
CY1118694T1 (el) Μεθοδοι διαχωρισμου σωματιδιων χρησιμοποιωντας μια συσκευη με ενα στοιχειο διαχωρισμου με διακριση μεγεθους που εχει μια επιμηκη αιχμη
CY1122239T1 (el) Μεθοδος για την ανιχνευση ανωμαλιων στην αιμοσφαιρινη
CY1120220T1 (el) Μεθοδοι και κυτια για προσδιορισμο της καταστασης λοιμωξης απο φυματιωση
PH12017500798A1 (en) Pna probes, kits and methods for detecting human papillomavirus genotypes of human papillomavirus
MX354822B (es) Metodos para la deteccion de anticuerpos neutralizantes anticitomegalovirus.
MX2018015213A (es) Secuencia de acido nucleico para detectar la existencia del evento de soya transgenica dbn9004 en una muestra biologica, equipo que contiene la misma y metodo de deteccion para la misma.
PH12020500156A1 (en) Enhancement of cancer screening using cell-free viral nucleic acids
BR112017003559A2 (pt) métodos para a detecção rápida e sensível de mutações de locais-alvo
WO2015023503A3 (en) Compositions and methods for multimodal analysis of cmet nucleic acids
EP4282961A3 (en) Compositions and methods for the detection and analysis of mycobacterium tuberculosis