HUE055063T2 - Eljárás magzati kromoszóma aneuploidia nem-invazív azonosítására születés elõtt anyai vérbõl Bayes-háló alapján - Google Patents

Eljárás magzati kromoszóma aneuploidia nem-invazív azonosítására születés elõtt anyai vérbõl Bayes-háló alapján

Info

Publication number
HUE055063T2
HUE055063T2 HUE17748700A HUE17748700A HUE055063T2 HU E055063 T2 HUE055063 T2 HU E055063T2 HU E17748700 A HUE17748700 A HU E17748700A HU E17748700 A HUE17748700 A HU E17748700A HU E055063 T2 HUE055063 T2 HU E055063T2
Authority
HU
Hungary
Prior art keywords
bayesian network
maternal blood
blood based
invasive prenatal
chromosome aneuploidy
Prior art date
Application number
HUE17748700A
Other languages
English (en)
Inventor
Jaroslav Budis
Frantisek Duris
Marcel Kucharik
Juraj Gazdarica
Tomas Szemes
Original Assignee
Trisomytest S R O
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 Trisomytest S R O filed Critical Trisomytest S R O
Publication of HUE055063T2 publication Critical patent/HUE055063T2/hu

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    • 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
    • C12Q1/6869Methods for sequencing
    • 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
    • G16B40/00ICT specially adapted for biostatistics; ICT specially adapted for bioinformatics-related machine learning or data mining, e.g. knowledge discovery or pattern finding
    • 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • 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
    • G16B30/10Sequence alignment; Homology search

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Physics & Mathematics (AREA)
  • Organic Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • General Health & Medical Sciences (AREA)
  • Biotechnology (AREA)
  • Genetics & Genomics (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Immunology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Databases & Information Systems (AREA)
  • Software Systems (AREA)
  • Pathology (AREA)
  • Public Health (AREA)
  • Evolutionary Computation (AREA)
  • Epidemiology (AREA)
  • Data Mining & Analysis (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
HUE17748700A 2017-07-26 2017-07-26 Eljárás magzati kromoszóma aneuploidia nem-invazív azonosítására születés elõtt anyai vérbõl Bayes-háló alapján HUE055063T2 (hu)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
PCT/EP2017/068881 WO2019020180A1 (en) 2017-07-26 2017-07-26 METHOD FOR NON-EFFECTIVE PRENATAL DETECTION OF FETAL CHROMOSOMAL ANEUPLOIDIE FROM MATERNAL BLOOD ON THE BASIS OF A BAYESIAN NETWORK
EP17748700.6A EP3658689B1 (en) 2017-07-26 2017-07-26 A method for non-invasive prenatal detection of fetal chromosome aneuploidy from maternal blood based on bayesian network

Publications (1)

Publication Number Publication Date
HUE055063T2 true HUE055063T2 (hu) 2021-10-28

Family

ID=59523092

Family Applications (1)

Application Number Title Priority Date Filing Date
HUE17748700A HUE055063T2 (hu) 2017-07-26 2017-07-26 Eljárás magzati kromoszóma aneuploidia nem-invazív azonosítására születés elõtt anyai vérbõl Bayes-háló alapján

Country Status (9)

Country Link
EP (1) EP3658689B1 (hu)
CY (1) CY1124409T1 (hu)
EA (1) EA202090325A1 (hu)
HR (1) HRP20210826T1 (hu)
HU (1) HUE055063T2 (hu)
LT (1) LT3658689T (hu)
PL (1) PL3658689T3 (hu)
SI (1) SI3658689T1 (hu)
WO (1) WO2019020180A1 (hu)

Families Citing this family (5)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
WO2021137770A1 (en) * 2019-12-30 2021-07-08 Geneton S.R.O. Method for fetal fraction estimation based on detection and interpretation of single nucleotide variants
CA3141362A1 (en) * 2019-12-31 2021-07-08 Bgi Clinical Laboratories (Shenzhen) Co., Ltd. Method and device for determining chromosomal aneuploidy and constructing classification model
WO2022035670A1 (en) * 2020-08-09 2022-02-17 Myriad Women's Health, Inc. Bayesian sex caller
CN113012759B (zh) * 2020-12-09 2022-08-12 人和未来生物科技(长沙)有限公司 一种基于X染色体的男胎cffDNA含量计算方法
WO2024049915A1 (en) * 2022-08-30 2024-03-07 The General Hospital Corporation High-resolution and non-invasive fetal sequencing

Family Cites Families (10)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3770275A1 (en) 2007-07-23 2021-01-27 The Chinese University of Hong Kong Determining a fetal aneuploidy
LT2562268T (lt) 2008-09-20 2017-04-25 The Board Of Trustees Of The Leland Stanford Junior University Neinvazinis fetalinės aneuploidijos diagnozavimas sekvenavimu
EP2824191A3 (en) 2009-10-26 2015-02-18 Lifecodexx AG Means and methods for non-invasive diagnosis of chromosomal aneuploidy
ES2704701T3 (es) 2010-01-19 2019-03-19 Verinata Health Inc Nuevo protocolo de preparación de bibliotecas de secuenciación
JP6153874B2 (ja) * 2011-02-09 2017-06-28 ナテラ, インコーポレイテッド 非侵襲的出生前倍数性呼び出しのための方法
WO2015026967A1 (en) * 2013-08-20 2015-02-26 Natera, Inc. Methods of using low fetal fraction detection
EP3175000B1 (en) * 2014-07-30 2020-07-29 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3204512B1 (en) * 2014-10-10 2020-05-06 Sequenom, Inc. Methods for partitioning of genomic sequences
CA2970501C (en) * 2014-12-12 2020-09-15 Verinata Health, Inc. Using cell-free dna fragment size to determine copy number variations
US20160371428A1 (en) * 2015-06-19 2016-12-22 Natera, Inc. Systems and methods for determining aneuploidy risk using sample fetal fraction

Also Published As

Publication number Publication date
EP3658689A1 (en) 2020-06-03
CY1124409T1 (el) 2022-07-22
WO2019020180A1 (en) 2019-01-31
LT3658689T (lt) 2021-06-25
PL3658689T3 (pl) 2021-10-18
HRP20210826T1 (hr) 2021-07-09
SI3658689T1 (sl) 2021-08-31
EP3658689B1 (en) 2021-03-24
EA202090325A1 (ru) 2020-05-12

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