EA202191891A1 - Способы неинвазивного пренатального тестирования аномалий плода - Google Patents

Способы неинвазивного пренатального тестирования аномалий плода

Info

Publication number
EA202191891A1
EA202191891A1 EA202191891A EA202191891A EA202191891A1 EA 202191891 A1 EA202191891 A1 EA 202191891A1 EA 202191891 A EA202191891 A EA 202191891A EA 202191891 A EA202191891 A EA 202191891A EA 202191891 A1 EA202191891 A1 EA 202191891A1
Authority
EA
Eurasian Patent Office
Prior art keywords
mixed sample
fetus
anomalies
methods
computer
Prior art date
Application number
EA202191891A
Other languages
English (en)
Inventor
Джордж Кумбарис
Ахиллеас Ахиллеос
Кириакос Тсангарас
Хараламбос Лойзидес
Мариос Иоаннидес
Филиппос Патсалис
Original Assignee
Нипд Дженетикс Паблик Компани Лимитед
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 Нипд Дженетикс Паблик Компани Лимитед filed Critical Нипд Дженетикс Паблик Компани Лимитед
Publication of EA202191891A1 publication Critical patent/EA202191891A1/ru

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
    • C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
    • C—CHEMISTRY; METALLURGY
    • C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
    • C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
    • C12N15/09—Recombinant DNA-technology
    • C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
    • C12N15/1034—Isolating an individual clone by screening libraries
    • C12N15/1072—Differential gene expression library synthesis, e.g. subtracted libraries, differential screening
    • 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
    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids

Landscapes

  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Analytical Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biotechnology (AREA)
  • General Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • General Health & Medical Sciences (AREA)
  • Immunology (AREA)
  • Biomedical Technology (AREA)
  • Pathology (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Crystallography & Structural Chemistry (AREA)
  • Plant Pathology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)

Abstract

Настоящее изобретение относится к способу обнаружения генетических и/или геномных аномалий в смешанном образце, включающему этапы биохимического и in silico обогащения подмножества внеклеточных фрагментов ДНК, происходящих из смешанного образца. В изобретении применяют пул длинных ДНК-зондов для обогащения представляющих интерес последовательностей в смешанном образце с последующим массовым параллельным секвенированием и основанным на применении компьютера анализом обогащенной субпопуляции для выявления риска генетических и/или геномных аномалий в указанной субпопуляции смешанного образца. Основанная на применении компьютера часть способа не требует обязательного выравнивания по эталонному геному или калибровочных значений с применением эталонных образцов. Способ также включает набор для осуществления изобретения.
EA202191891A 2019-02-13 2020-02-11 Способы неинвазивного пренатального тестирования аномалий плода EA202191891A1 (ru)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
EP19156991.2A EP3696279A1 (en) 2019-02-13 2019-02-13 Methods for noninvasive prenatal testing of fetal abnormalities
PCT/EP2020/053504 WO2020165190A1 (en) 2019-02-13 2020-02-11 Methods for noninvasive prenatal testing of fetal abnormalities

Publications (1)

Publication Number Publication Date
EA202191891A1 true EA202191891A1 (ru) 2021-12-15

Family

ID=65433622

Family Applications (1)

Application Number Title Priority Date Filing Date
EA202191891A EA202191891A1 (ru) 2019-02-13 2020-02-11 Способы неинвазивного пренатального тестирования аномалий плода

Country Status (6)

Country Link
US (1) US20220145368A1 (ru)
EP (2) EP3696279A1 (ru)
AU (1) AU2020220365A1 (ru)
CA (1) CA3129251A1 (ru)
EA (1) EA202191891A1 (ru)
WO (1) WO2020165190A1 (ru)

Family Cites Families (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA2986200A1 (en) * 2015-05-22 2016-12-01 Nipd Genetics Public Company Limited Multiplexed parallel analysis of targeted genomic regions for non-invasive prenatal testing
WO2018081130A1 (en) * 2016-10-24 2018-05-03 The Chinese University Of Hong Kong Methods and systems for tumor detection

Also Published As

Publication number Publication date
EP3696279A1 (en) 2020-08-19
WO2020165190A1 (en) 2020-08-20
US20220145368A1 (en) 2022-05-12
AU2020220365A1 (en) 2021-08-12
EP3924511A1 (en) 2021-12-22
CA3129251A1 (en) 2020-08-20

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