BR112021022084A2 - Marcadores para identificar e quantificar a mutação da sequência de ácido nucleico, expressão, variante de splice, translocação, número de cópias ou alterações de metilação - Google Patents

Marcadores para identificar e quantificar a mutação da sequência de ácido nucleico, expressão, variante de splice, translocação, número de cópias ou alterações de metilação

Info

Publication number
BR112021022084A2
BR112021022084A2 BR112021022084A BR112021022084A BR112021022084A2 BR 112021022084 A2 BR112021022084 A2 BR 112021022084A2 BR 112021022084 A BR112021022084 A BR 112021022084A BR 112021022084 A BR112021022084 A BR 112021022084A BR 112021022084 A2 BR112021022084 A2 BR 112021022084A2
Authority
BR
Brazil
Prior art keywords
alternative
translocation
markers
expression
nucleic acid
Prior art date
Application number
BR112021022084A
Other languages
English (en)
Portuguese (pt)
Inventor
H Mirza Aashiq
Francis Barany
Jianmin Huang
D Bacolod Manny
B Feinberg Philip
F Giardina Sarah
Original Assignee
Univ Cornell
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 Univ Cornell filed Critical Univ Cornell
Publication of BR112021022084A2 publication Critical patent/BR112021022084A2/pt

Links

Classifications

    • 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
    • C12Q1/6844Nucleic acid amplification reactions
    • C12Q1/6858Allele-specific amplification
    • 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
    • C12Q1/6886Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
    • 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
    • C12Q2600/154Methylation markers
    • 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
    • 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
    • C12Q2600/158Expression markers
    • 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
    • C12Q2600/178Oligonucleotides characterized by their use miRNA, siRNA or ncRNA

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)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Genetics & Genomics (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Molecular Biology (AREA)
  • General Health & Medical Sciences (AREA)
  • General Engineering & Computer Science (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Oncology (AREA)
  • Hospice & Palliative Care (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
BR112021022084A 2019-05-03 2020-05-01 Marcadores para identificar e quantificar a mutação da sequência de ácido nucleico, expressão, variante de splice, translocação, número de cópias ou alterações de metilação BR112021022084A2 (pt)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201962843032P 2019-05-03 2019-05-03
PCT/US2020/031044 WO2020227100A1 (en) 2019-05-03 2020-05-01 Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes

Publications (1)

Publication Number Publication Date
BR112021022084A2 true BR112021022084A2 (pt) 2022-02-08

Family

ID=73050598

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112021022084A BR112021022084A2 (pt) 2019-05-03 2020-05-01 Marcadores para identificar e quantificar a mutação da sequência de ácido nucleico, expressão, variante de splice, translocação, número de cópias ou alterações de metilação

Country Status (10)

Country Link
US (1) US20220243263A1 (enExample)
EP (1) EP3963095A4 (enExample)
JP (2) JP2022530920A (enExample)
CN (1) CN115244188A (enExample)
AU (1) AU2020268885A1 (enExample)
BR (1) BR112021022084A2 (enExample)
CA (1) CA3135726A1 (enExample)
IL (1) IL287804A (enExample)
SG (1) SG11202112246UA (enExample)
WO (1) WO2020227100A1 (enExample)

Families Citing this family (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
CA3127329A1 (en) 2019-01-24 2020-07-30 Mayo Foundation For Medical Education And Research Detecting endometrial cancer
US11702704B2 (en) 2019-10-31 2023-07-18 Mayo Foundation For Medical Education And Research Detecting ovarian cancer
EP4267763B1 (en) * 2020-12-24 2025-07-23 Life Technologies Corporation Compositions and methods for highly sensitive detection of target sequences in multiplex reactions
CA3211005A1 (en) * 2021-03-05 2022-09-09 Mayo Foundation For Medical Education And Research Detecting cervical cancer
WO2022246000A1 (en) * 2021-05-19 2022-11-24 City Of Hope Compositions and methods for determining dna methylation level in cancer
WO2023017001A1 (en) * 2021-08-09 2023-02-16 Epigenomics Ag Improved methods for detecting colorectal cancer
CA3268032A1 (en) * 2022-09-23 2024-03-28 Flagship Pioneering Innovations Vi, Llc NUCLEIC ACID AMPLIFICATION PROCESSES
WO2024154075A1 (en) * 2023-01-18 2024-07-25 Pixelgen Technologies Ab Gap-fill ligation and primer extension reactions employing exonuclease-resistant or capture moiety means
AU2024263920A1 (en) * 2023-04-24 2025-11-13 Saga Diagnostics Ab Detection of variants
WO2024259135A1 (en) 2023-06-13 2024-12-19 Intellia Therapeutics, Inc. Assays for analysis of ribonucleic acid (rna) molecules
CN117305312B (zh) * 2023-10-19 2024-08-20 西南大学 一个家蚕专一取食桑叶的决定基因Zfh3及其应用
US20250223652A1 (en) * 2024-01-05 2025-07-10 Harbinger Health, Inc. Tiered testing for high risk populations
CN118986863A (zh) * 2024-10-18 2024-11-22 四川新泌学生物科技有限公司 一种外阴用外泌体凝胶及其制备方法

Family Cites Families (13)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ATE342378T1 (de) * 1999-03-19 2006-11-15 Cornell Res Foundation Inc Verfahren das auf den gekoppelten reactionen der polymerase-kettenreaktion (pcr)-verdauung mit restriktionsenzymen und ligasenachweis basiert
EP2386654A1 (en) * 2005-05-02 2011-11-16 University of Southern California DNA Methylation markers associated with the CpG island methylator phenotype (cimp) in human colorectal cancer
EP2129796B1 (en) * 2007-02-21 2013-10-23 Oslo Universitetssykehus HF New markers for cancer
SG11201404899VA (en) * 2012-02-14 2014-10-30 Univ Cornell Method for relative quantification of nucleic acid sequence, expression, or copy changes, using combined nuclease, ligation, and polymerase reactions
SI4056712T1 (sl) * 2012-09-20 2024-10-30 The Chinese University Of Hong Kong Neinvazivno določanje metiloma tumorja iz plazme
US10155991B2 (en) * 2013-08-15 2018-12-18 Xueliang James Xia Biomarkers for use in colorectal cancer
PT3204520T (pt) * 2014-10-08 2020-04-16 Univ Cornell Método de identificação e quantificação da expressão de ácidos nucleicos, variantes de splicing, translocação, número de cópias ou alterações de metilação
US10030272B2 (en) * 2015-02-27 2018-07-24 Mayo Foundation For Medical Education And Research Detecting gastrointestinal neoplasms
US10829804B2 (en) * 2015-03-23 2020-11-10 The University Of North Carolina At Chapel Hill Method for identification and enumeration of nucleic acid sequences, expression, splice variant, translocation, copy, or DNA methylation changes using combined nuclease, ligase, polymerase, terminal transferase, and sequencing reactions
ES2835866T5 (es) * 2015-05-12 2024-12-02 Hoffmann La Roche Procedimientos terapéuticos y de diagnóstico para el cáncer
GB201511152D0 (en) * 2015-06-24 2015-08-05 Ucl Business Plc Method of diagnosing bladder cancer
WO2018087129A1 (en) * 2016-11-08 2018-05-17 Region Nordjylland, Aalborg University Hospital Colorectal cancer methylation markers
CA3076386A1 (en) * 2017-09-29 2019-04-04 Arizona Board Of Regents On Behalf Of The University Of Arizona Dna methylation biomarkers for cancer diagnosing

Also Published As

Publication number Publication date
IL287804A (en) 2022-01-01
EP3963095A4 (en) 2023-01-25
WO2020227100A1 (en) 2020-11-12
SG11202112246UA (en) 2021-12-30
WO2020227100A8 (en) 2022-01-13
EP3963095A1 (en) 2022-03-09
AU2020268885A1 (en) 2021-12-02
CA3135726A1 (en) 2020-11-12
JP2026002789A (ja) 2026-01-08
CN115244188A (zh) 2022-10-25
US20220243263A1 (en) 2022-08-04
JP2022530920A (ja) 2022-07-04

Similar Documents

Publication Publication Date Title
BR112021022084A2 (pt) Marcadores para identificar e quantificar a mutação da sequência de ácido nucleico, expressão, variante de splice, translocação, número de cópias ou alterações de metilação
BR112017007033A2 (pt) método para identificação e quantificação relativa da expressão de sequências de ácido nucleico, variante de emenda, translocação, número de cópias, ou alterações por metilação usando reações de nuclease, ligação, e polimerase combinadas com prevenção de carryover
WO2020227127A3 (en) Method and markers for identifying and quantifying of nucleic acid sequence, mutation, copy number, or methylation changes
BR112022022179A2 (pt) Método e marcadores para identificação e quantificação relativa de sequência de ácido nucleico, mutação, número de cópia ou alterações de metilação usando combinações de nuclease, ligação, desaminação, reparo de dna e reações de polimerase com prevenção de tranferência
Ziller et al. Genomic distribution and inter-sample variation of non-CpG methylation across human cell types
Bartolomei Genomic imprinting: employing and avoiding epigenetic processes
Zong et al. RNA: a double-edged sword in genome maintenance
Lin et al. Genome-wide determination of on-target and off-target characteristics for RNA-guided DNA methylation by dCas9 methyltransferases
Wu et al. Divergent transcription: a driving force for new gene origination?
Charlet et al. Bivalent regions of cytosine methylation and H3K27 acetylation suggest an active role for DNA methylation at enhancers
Antoniou et al. Idiopathic pulmonary fibrosis and lung cancer: a clinical and pathogenesis update
Brouwer et al. Microsatellite repeat instability and neurological disease
CY1121037T1 (el) Αντινοηματικα πολυνουκλεοτιδια για να διεγειρεται παραλειψη εξονιου και μεθοδοι θεραπειας δυστροφιων
Muro et al. Functional evidence of post-transcriptional regulation by pseudogenes
Simpson et al. Comparison of the mitochondrial genomes and steady state transcriptomes of two strains of the trypanosomatid parasite, Leishmania tarentolae
MX382588B (es) Métodos para caracterizar la composición de secuencias de adn en un genoma.
IL295755A (en) Oligonucleotide compositions and methods thereof
CY1117098T1 (el) Μεθοδος για αποτελεσματικη παραλειψη εξωνιου (44) σε μυϊκη δυστροφια duchenne και συνδεδεμενα μεσα
Brouwer et al. Transcriptionally repressive chromatin remodelling and CpG methylation in the presence of expanded CTG‐repeats at the DM1 locus
ATE557088T1 (de) Pankreasinsel-mikro-rna und verfahren zu ihrer unterdrückung
Elam et al. Phosphomimetic S3D cofilin binds but only weakly severs actin filaments
AR065286A1 (es) Composiciones y metodos que utilizan arn de interferencia destinado a genes de tipo mthfr para el control de nematodos
WO2022119975A2 (en) High throughput rna-editing screening methods
Kobayashi et al. Epigenetic and transcriptional features of the novel human imprinted lncRNA GPR1AS suggest it is a functional ortholog to mouse Zdbf2linc
BR112017008291A2 (pt) oligonucleotídeos para edição de dna genômico