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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

Info

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
Authority
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

Links

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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)
  • 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)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Theoretical Computer Science (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Evolutionary Biology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Microbiology (AREA)
  • Epidemiology (AREA)
  • Databases & Information Systems (AREA)
  • Evolutionary Computation (AREA)
  • Data Mining & Analysis (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Bioethics (AREA)
  • Artificial Intelligence (AREA)
  • Pathology (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
WO2021134513A1 (zh) * 2019-12-31 2021-07-08 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
EP4192981A4 (en) * 2020-08-09 2024-08-14 Myriad Women's Health, Inc. BAYES 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
CN106834481A (zh) 2007-07-23 2017-06-13 香港中文大学 用于分析遗传变异的方法
ES2620294T3 (es) 2008-09-20 2017-06-28 The Board Of Trustees Of The Leland Stanford Junior University Diagnóstico no invasivo de la aneuploidia fetal por secuenciación
EP2824191A3 (en) 2009-10-26 2015-02-18 Lifecodexx AG Means and methods for non-invasive diagnosis of chromosomal aneuploidy
AU2010343276B2 (en) 2010-01-19 2015-05-28 Verinata Health, Inc. Methods for determining fraction of fetal nucleic acid in maternal samples
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
EP3760739B1 (en) * 2014-07-30 2025-09-03 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
JP6971845B2 (ja) * 2014-10-10 2021-11-24 セクエノム, インコーポレイテッド 遺伝子の変動の非侵襲的評価のための方法および処理
WO2016094853A1 (en) * 2014-12-12 2016-06-16 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
SI3658689T1 (sl) 2021-08-31
EA202090325A1 (ru) 2020-05-12
LT3658689T (lt) 2021-06-25
HRP20210826T1 (hr) 2021-07-09
EP3658689A1 (en) 2020-06-03
CY1124409T1 (el) 2022-07-22
HUE055063T2 (hu) 2021-10-28
EP3658689B1 (en) 2021-03-24
WO2019020180A1 (en) 2019-01-31

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