AU2020268885A1 - Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes - Google Patents

Markers for identifying and quantifying of nucleic acid sequence mutation, expression, splice variant, translocation, copy number, or methylation changes Download PDF

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Publication number
AU2020268885A1
AU2020268885A1 AU2020268885A AU2020268885A AU2020268885A1 AU 2020268885 A1 AU2020268885 A1 AU 2020268885A1 AU 2020268885 A AU2020268885 A AU 2020268885A AU 2020268885 A AU2020268885 A AU 2020268885A AU 2020268885 A1 AU2020268885 A1 AU 2020268885A1
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Prior art keywords
polymerase chain
chain reaction
nucleic acid
sequence
oligonucleotide primer
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AU2020268885A
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English (en)
Inventor
Manny D. BACOLOD
Francis Barany
Philip B. Feinberg
Sarah F. Giardina
Jianmin Huang
Aashiq H. MIRZA
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Cornell University
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Cornell University
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Publication of AU2020268885A1 publication Critical patent/AU2020268885A1/en
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    • 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

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  • 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)
AU2020268885A 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 Pending AU2020268885A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201962843032P 2019-05-03 2019-05-03
US62/843,032 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
AU2020268885A1 true AU2020268885A1 (en) 2021-12-02

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AU2020268885A Pending AU2020268885A1 (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

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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)

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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

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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
BR112021022084A2 (pt) 2022-02-08
EP3963095A1 (en) 2022-03-09
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

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