EP4720348A2 - Procédés d'atténuation de biais de méthylation - Google Patents

Procédés d'atténuation de biais de méthylation

Info

Publication number
EP4720348A2
EP4720348A2 EP24811907.5A EP24811907A EP4720348A2 EP 4720348 A2 EP4720348 A2 EP 4720348A2 EP 24811907 A EP24811907 A EP 24811907A EP 4720348 A2 EP4720348 A2 EP 4720348A2
Authority
EP
European Patent Office
Prior art keywords
nucleic acid
dna
reaction
methylation
cancer
Prior art date
Legal status (The legal status 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 status listed.)
Pending
Application number
EP24811907.5A
Other languages
German (de)
English (en)
Inventor
Nicole Lambert
James Yu
Neil PETERMAN
Yexun Wang
Alexander Robertson
Jason CLOSE
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Foundation Medicine Inc
Original Assignee
Foundation Medicine Inc
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 Foundation Medicine Inc filed Critical Foundation Medicine Inc
Publication of EP4720348A2 publication Critical patent/EP4720348A2/fr
Pending legal-status Critical Current

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
    • C12Q1/6806—Preparing nucleic acids for analysis, e.g. for polymerase chain reaction [PCR] assay
    • 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
    • C12Q1/6813—Hybridisation assays
    • C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
    • 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
    • C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • C12Q1/6844—Nucleic acid amplification reactions
    • C12Q1/6853—Nucleic acid amplification reactions using modified primers or templates
    • C12Q1/6855—Ligating adaptors
    • 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
    • C12Q2600/154—Methylation markers

Landscapes

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

Abstract

L'invention concerne des procédés d'atténuation du biais de méthylation pendant la préparation de bibliothèques de séquençage. Les procédés peuvent comprendre, par exemple, l'extraction de fragments d'ADN d'un échantillon ; la réalisation d'au moins l'un des éléments suivants : (i) une première réaction de réparation d'extrémité, la première réaction de réparation d'extrémité comprenant l'utilisation d'une ADN polymérase sans déplacement de brin ; ou (ii) une seconde réaction de réparation d'extrémité, la seconde réaction de réparation d'extrémité comprenant l'utilisation d'un mécanisme de terminaison de chaîne ; la réalisation d'au moins l'un parmi : (iii) une réaction de queue destinée à ajouter un brin polynucléotidique en extension aux fragments d'ADN réparés en bout, la réaction de queue comprenant l'utilisation d'un seul désoxynucléotide triphosphate (dNTP) ; ou (iv) une réaction de réparation de césure/espacement à l'aide d'une ADN ligase pour remplir des césures ou des espacements simple brin dans les fragments d'ADN réparés en bout, pour générer une pluralité de fragments d'ADN modifiés ; et effectuer une analyse de méthylation de molécules d'acide nucléique dérivées de la pluralité de fragments d'ADN modifiés.
EP24811907.5A 2023-05-24 2024-05-23 Procédés d'atténuation de biais de méthylation Pending EP4720348A2 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US202363468742P 2023-05-24 2023-05-24
PCT/US2024/030762 WO2024243407A2 (fr) 2023-05-24 2024-05-23 Procédés d'atténuation de biais de méthylation

Publications (1)

Publication Number Publication Date
EP4720348A2 true EP4720348A2 (fr) 2026-04-08

Family

ID=93590479

Family Applications (1)

Application Number Title Priority Date Filing Date
EP24811907.5A Pending EP4720348A2 (fr) 2023-05-24 2024-05-23 Procédés d'atténuation de biais de méthylation

Country Status (3)

Country Link
EP (1) EP4720348A2 (fr)
CN (1) CN121532527A (fr)
WO (1) WO2024243407A2 (fr)

Family Cites Families (4)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US11060145B2 (en) * 2013-03-13 2021-07-13 Sequenom, Inc. Methods and compositions for identifying presence or absence of hypermethylation or hypomethylation locus
GB201405226D0 (en) * 2014-03-24 2014-05-07 Cambridge Entpr Ltd Nucleic acid preparation method
KR20220015367A (ko) * 2019-05-31 2022-02-08 프리놈 홀딩스, 인크. 메틸화된 핵산의 고심도 시퀀싱 방법 및 시스템
CN119923475A (zh) * 2022-07-21 2025-05-02 夸登特健康公司 用于检测和减少样品制备诱导的甲基化人为假象的方法

Also Published As

Publication number Publication date
WO2024243407A3 (fr) 2025-05-08
CN121532527A (zh) 2026-02-13
WO2024243407A2 (fr) 2024-11-28

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