LT3658689T - Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu - Google Patents

Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu

Info

Publication number
LT3658689T
LT3658689T LTEP17748700.6T LT17748700T LT3658689T LT 3658689 T LT3658689 T LT 3658689T LT 17748700 T LT17748700 T LT 17748700T LT 3658689 T LT3658689 T LT 3658689T
Authority
LT
Lithuania
Prior art keywords
bayesian network
maternal blood
blood based
invasive prenatal
chromosome aneuploidy
Prior art date
Application number
LTEP17748700.6T
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 LT3658689T publication Critical patent/LT3658689T/lt

Links

Classifications

    • 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)
LTEP17748700.6T 2017-07-26 2017-07-26 Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu LT3658689T (lt)

Applications Claiming Priority (1)

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

Publications (1)

Publication Number Publication Date
LT3658689T true LT3658689T (lt) 2021-06-25

Family

ID=59523092

Family Applications (1)

Application Number Title Priority Date Filing Date
LTEP17748700.6T LT3658689T (lt) 2017-07-26 2017-07-26 Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu

Country Status (9)

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

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
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
EA035451B9 (ru) 2007-07-23 2020-09-09 Те Чайниз Юниверсити Ов Гонконг Способ диагностики рака с использованием геномного секвенирования
EP2952589B1 (en) 2008-09-20 2018-02-14 The Board of Trustees of The Leland Stanford Junior University Noninvasive diagnosis of fetal aneuploidy by sequencing
ES2564656T3 (es) 2009-10-26 2016-03-28 Lifecodexx Ag Medios y métodos para el diagnóstico no invasivo de la aneuploidía cromosómica
EP2848704B1 (en) 2010-01-19 2018-08-29 Verinata Health, Inc Sequencing methods for prenatal diagnoses
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
EP3760739A1 (en) * 2014-07-30 2021-01-06 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
CA2964158A1 (en) * 2014-10-10 2016-04-14 Sequenom, Inc. Methods and processes for non-invasive assessment of genetic variations
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
SI3658689T1 (sl) 2021-08-31
EP3658689B1 (en) 2021-03-24
PL3658689T3 (pl) 2021-10-18
HRP20210826T1 (hr) 2021-07-09
EP3658689A1 (en) 2020-06-03
CY1124409T1 (el) 2022-07-22
WO2019020180A1 (en) 2019-01-31
EA202090325A1 (ru) 2020-05-12

Similar Documents

Publication Publication Date Title
LT3658689T (lt) Neinvazinis prenatalinis vaisiaus chromosomos aneuploidijos nustatymo būdas iš motinos kraujo remiantis bajeso tinklu
ZA202002204B (en) Method for increasing fetal hemoglobin expression level
HRP20190168T1 (hr) Metoda neinvazivne prenatalne detekcije aneuploidije kromosoma fetusa iz krvi majke
EP3397145A4 (en) SYSTEMS, DEVICES AND METHODS FOR PERFORMING TRANS-ABDOMINAL FETAL OXIMETRY AND / OR TRANS-ABDOMINAL FETAL PULSE OXIMETRY
EP3701529C0 (en) SYSTEM AND METHOD FOR ASSESSING PHYSIOLOGICAL STATE
EP3188059A4 (en) Method for determining patient-specific blood vessel information
EP3406189C0 (en) SYSTEM AND METHOD FOR ESTIMATING HEART RATE
EP3405896A4 (en) SYSTEMS AND METHODS FOR ENHANCING DIAGNOSIS OF DISEASE
WO2017009372A3 (en) System and methodology for the analysis of genomic data obtained from a subject
EP3568472A4 (en) PROCEDURE FOR NON-INVASIVE PRENATAL SCREENING FOR ANEUPLOIDIA
SG10201601166RA (en) Method and system for providing automatic recommendations based on physiological data of individuals
IL266707A (en) A system, device and method for monitoring and assessing the risk level of the fetus during birth
GB201718238D0 (en) Method and system for determining the disease status of a subject
HK1252710A1 (zh) 用於非侵入性產前測試的靶向基因組區的多重平行分析
EP3347844A4 (en) METHOD AND SYSTEM FOR DIAGNOSIS OF DISEASES AND FOR THE PREPARATION OF TREATMENT RECOMMENDATIONS
EP3731755A4 (en) SYSTEMS, DEVICES AND METHODS FOR PERFORMING TRANSABDOMINAL FETAL OXIMETRY AND / OR TRANSABDOMINAL FETAL PULSE OXIMETRY WITH INDEPENDENT COMPONENT ANALYSIS
GB201609207D0 (en) Method and system for predicting heart tissue activation
HUE047242T2 (hu) Eljárás magzati alkohol spektrumzavar diagnosztizálására
WO2013173499A3 (en) Diagnostic methods and devices for monitoring chronic glycemia
EP3866835A4 (en) METHOD OF MONITORING AN AUTOIMMUNE DISEASE
EP4003168A4 (en) SYSTEMS AND METHODS FOR PERFORMING PULSE OXIMETRY OR TRANS-ABDOMINAL FETAL OXIMETRY
EP3702784A4 (en) BLOOD-BASED CANCER DIAGNOSIS METHOD
ZA201607324B (en) Non-invasive diagnostic method for the early detection of fetal malformations
GB201618027D0 (en) Method for blind extraction of fetal electrocardio based on time-frequency conversion
IL272484A (en) Systems and methods for improving disease diagnosis using measured test substances