PL3658689T3 - Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską - Google Patents

Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską

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Publication number
PL3658689T3
PL3658689T3 PL17748700T PL17748700T PL3658689T3 PL 3658689 T3 PL3658689 T3 PL 3658689T3 PL 17748700 T PL17748700 T PL 17748700T PL 17748700 T PL17748700 T PL 17748700T PL 3658689 T3 PL3658689 T3 PL 3658689T3
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PL
Poland
Prior art keywords
bayesian network
maternal blood
blood based
invasive prenatal
chromosome aneuploidy
Prior art date
Application number
PL17748700T
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 PL3658689T3 publication Critical patent/PL3658689T3/pl

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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

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  • 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)
  • Analytical Chemistry (AREA)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Wood Science & Technology (AREA)
  • Zoology (AREA)
  • Genetics & Genomics (AREA)
  • General Health & Medical Sciences (AREA)
  • Medical Informatics (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Theoretical Computer Science (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Microbiology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Artificial Intelligence (AREA)
  • Pathology (AREA)
  • Bioethics (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
PL17748700T 2017-07-26 2017-07-26 Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską PL3658689T3 (pl)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
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
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

Publications (1)

Publication Number Publication Date
PL3658689T3 true PL3658689T3 (pl) 2021-10-18

Family

ID=59523092

Family Applications (1)

Application Number Title Priority Date Filing Date
PL17748700T PL3658689T3 (pl) 2017-07-26 2017-07-26 Sposób nieinwazyjnego wykrywania prenatalnego aneuploidii chromosomów płodu z krwi matki w oparciu o sieć bayesowską

Country Status (9)

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

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
CN111226281B (zh) * 2019-12-31 2023-03-21 深圳华大医学检验实验室 确定染色体非整倍性、构建分类模型的方法和装置
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
EP4581624A1 (en) * 2022-08-30 2025-07-09 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
LT2557517T (lt) 2007-07-23 2023-01-10 The Chinese University Of Hong Kong Nukleino rūgščių sekos disbalanso nustatymas
HUE031848T2 (en) 2008-09-20 2017-08-28 Univ Leland Stanford Junior Non-invasive diagnosis of fetal aneuploidy by sequencing
AU2010311535B2 (en) 2009-10-26 2015-05-21 Lifecodexx Ag Means and methods for non-invasive diagnosis of chromosomal aneuploidy
ES2534758T3 (es) 2010-01-19 2015-04-28 Verinata Health, Inc. Métodos de secuenciación en diagnósticos prenatales
AU2011358564B9 (en) * 2011-02-09 2017-07-13 Natera, Inc Methods for non-invasive prenatal ploidy calling
WO2015026967A1 (en) * 2013-08-20 2015-02-26 Natera, Inc. Methods of using low fetal fraction detection
WO2016019042A1 (en) * 2014-07-30 2016-02-04 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
US10892035B2 (en) * 2014-10-10 2021-01-12 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
EP3502273B1 (en) * 2014-12-12 2020-07-08 Verinata Health, Inc. Cell-free dna fragment
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
EP3658689B1 (en) 2021-03-24
EP3658689A1 (en) 2020-06-03
WO2019020180A1 (en) 2019-01-31
LT3658689T (lt) 2021-06-25
EA202090325A1 (ru) 2020-05-12
HUE055063T2 (hu) 2021-10-28
CY1124409T1 (el) 2022-07-22
SI3658689T1 (sl) 2021-08-31
HRP20210826T1 (hr) 2021-07-09

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