SI3658689T1 - Metoda za neizvazivno predrojstno zaznavanje anevploidije plodovih kromosomov iz materine krvi na osnovi Bayesove mreže - Google Patents

Metoda za neizvazivno predrojstno zaznavanje anevploidije plodovih kromosomov iz materine krvi na osnovi Bayesove mreže

Info

Publication number
SI3658689T1
SI3658689T1 SI201730718T SI201730718T SI3658689T1 SI 3658689 T1 SI3658689 T1 SI 3658689T1 SI 201730718 T SI201730718 T SI 201730718T SI 201730718 T SI201730718 T SI 201730718T SI 3658689 T1 SI3658689 T1 SI 3658689T1
Authority
SI
Slovenia
Prior art keywords
bayesian network
maternal blood
blood based
invasive prenatal
chromosome aneuploidy
Prior art date
Application number
SI201730718T
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 SI3658689T1 publication Critical patent/SI3658689T1/sl

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    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • G16B20/10—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
    • 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
    • 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
    • C12Q2600/00—Oligonucleotides characterized by their use
    • C12Q2600/156—Polymorphic or mutational markers
    • 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
    • G16B30/10—Sequence 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)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
SI201730718T 2017-07-26 2017-07-26 Metoda za neizvazivno predrojstno zaznavanje anevploidije plodovih kromosomov iz materine krvi na osnovi Bayesove mreže SI3658689T1 (sl)

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
SI3658689T1 true SI3658689T1 (sl) 2021-08-31

Family

ID=59523092

Family Applications (1)

Application Number Title Priority Date Filing Date
SI201730718T SI3658689T1 (sl) 2017-07-26 2017-07-26 Metoda za neizvazivno predrojstno zaznavanje anevploidije plodovih kromosomov iz materine krvi na osnovi Bayesove mreže

Country Status (9)

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

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
JP7467504B2 (ja) * 2019-12-31 2024-04-15 ビージーアイ、クリニカル、ラボラトリーズ、（シェンチェン）、カンパニー、リミテッド 染色体異数性を判定するためおよび分類モデルを構築するための方法およびデバイス
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
PL2557520T3 (pl) 2007-07-23 2021-10-11 The Chinese University Of Hong Kong Określanie zaburzenia równowagi sekwencji kwasu nukleinowego
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
ES2560929T3 (es) 2010-01-19 2016-02-23 Verinata Health, Inc. Métodos de determinación de la fracción de ácido nucleico fetal en muestras maternas
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
WO2016019042A1 (en) * 2014-07-30 2016-02-04 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
EP3567120B1 (en) * 2014-12-12 2020-08-19 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
HUE055063T2 (hu) 2021-10-28
WO2019020180A1 (en) 2019-01-31
CY1124409T1 (el) 2022-07-22
LT3658689T (lt) 2021-06-25
HRP20210826T1 (hr) 2021-07-09
EP3658689B1 (en) 2021-03-24
EA202090325A1 (ru) 2020-05-12
PL3658689T3 (pl) 2021-10-18
EP3658689A1 (en) 2020-06-03

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