BR112021023025A2 - Detecção de aneuploidia rápida - Google Patents

Detecção de aneuploidia rápida

Info

Publication number
BR112021023025A2
BR112021023025A2 BR112021023025A BR112021023025A BR112021023025A2 BR 112021023025 A2 BR112021023025 A2 BR 112021023025A2 BR 112021023025 A BR112021023025 A BR 112021023025A BR 112021023025 A BR112021023025 A BR 112021023025A BR 112021023025 A2 BR112021023025 A2 BR 112021023025A2
Authority
BR
Brazil
Prior art keywords
materials
provides methods
cancer
document provides
congenital
Prior art date
Application number
BR112021023025A
Other languages
English (en)
Portuguese (pt)
Inventor
Bert Vogelstein
Christopher Douville
Cristian Tomasetti
W Kinzler Kenneth
Nickolas Papadopoulos
Original Assignee
Univ Johns Hopkins
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 Johns Hopkins filed Critical Univ Johns Hopkins
Publication of BR112021023025A2 publication Critical patent/BR112021023025A2/pt

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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
    • C12Q1/6813—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
    • C12Q1/6876—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
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/53—Immunoassay; Biospecific binding assay; Materials therefor
    • G01N33/575—Immunoassay; Biospecific binding assay; Materials therefor for cancer
    • G01N33/5758—Immunoassay; Biospecific binding assay; Materials therefor for cancer involving compounds serving as markers for tumours, cancers or neoplasias, e.g. cellular determinants, receptors, heat shock/stress proteins, A-protein, oligosaccharides or metabolites
    • 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
    • G16B40/20—Supervised data analysis
    • 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
    • C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
    • C12Q2535/122—Massive parallel 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
    • C12Q2537/00—Reactions characterised by the reaction format or use of a specific feature
    • C12Q2537/10—Reactions characterised by the reaction format or use of a specific feature the purpose or use of
    • C12Q2537/16—Assays for determining copy number or wherein the copy number is of special importance
    • 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
    • C12Q2600/118—Prognosis of disease development
    • 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
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/50—Determining the risk of developing a disease

Landscapes

  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Immunology (AREA)
  • Analytical Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Genetics & Genomics (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Pathology (AREA)
  • General Health & Medical Sciences (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Biophysics (AREA)
  • General Engineering & Computer Science (AREA)
  • Biomedical Technology (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Cell Biology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • General Physics & Mathematics (AREA)
  • Medicinal Chemistry (AREA)
  • Food Science & Technology (AREA)
  • Medical Informatics (AREA)
  • Data Mining & Analysis (AREA)
  • Databases & Information Systems (AREA)
  • Computer Vision & Pattern Recognition (AREA)
  • Artificial Intelligence (AREA)
  • Epidemiology (AREA)
  • Evolutionary Computation (AREA)
  • Bioethics (AREA)
  • Public Health (AREA)
  • Software Systems (AREA)
BR112021023025A 2019-05-17 2020-05-15 Detecção de aneuploidia rápida BR112021023025A2 (pt)

Applications Claiming Priority (4)

Application Number Priority Date Filing Date Title
US201962849662P 2019-05-17 2019-05-17
US201962905327P 2019-09-24 2019-09-24
US202062971050P 2020-02-06 2020-02-06
PCT/US2020/033209 WO2020236625A2 (en) 2019-05-17 2020-05-15 Rapid aneuploidy detection

Publications (1)

Publication Number Publication Date
BR112021023025A2 true BR112021023025A2 (pt) 2022-01-04

Family

ID=71741878

Family Applications (1)

Application Number Title Priority Date Filing Date
BR112021023025A BR112021023025A2 (pt) 2019-05-17 2020-05-15 Detecção de aneuploidia rápida

Country Status (14)

Country Link
US (1) US20220259668A1 (https=)
EP (1) EP3969616A2 (https=)
JP (2) JP2022532761A (https=)
KR (1) KR20220021909A (https=)
CN (1) CN114207147A (https=)
AU (2) AU2020279106B2 (https=)
BR (1) BR112021023025A2 (https=)
CA (1) CA3140850A1 (https=)
CL (1) CL2021003030A1 (https=)
CO (1) CO2021017009A2 (https=)
IL (1) IL288081A (https=)
MX (1) MX2021013834A (https=)
SG (1) SG11202112680XA (https=)
WO (1) WO2020236625A2 (https=)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
EP3969616A2 (en) * 2019-05-17 2022-03-23 The Johns Hopkins University Rapid aneuploidy detection
WO2022155409A1 (en) * 2021-01-14 2022-07-21 Case Western Reserve University Methods of detecting high risk barrett's esophagus with dysplasia, and esophageal adenocarcinoma
US20260071279A1 (en) * 2022-06-10 2026-03-12 The Johns Hopkins University Methods for identifying cns cancer in a subject
CN114990202B (zh) * 2022-07-29 2022-09-30 普瑞基准科技（北京）有限公司 Snp位点在评估基因组异常的应用及评估基因组异常的方法
WO2024155909A1 (en) * 2023-01-19 2024-07-25 The Johns Hopkins University Methods for identifying ovarian cancer in a subject
EP4662335A2 (en) * 2023-02-09 2025-12-17 The Translational Genomics Research Institute Amplicon-based approach for detecting differences in human dna fragmentation patterns between cancer and non-cancer samples
AU2024216779A1 (en) * 2023-02-09 2025-08-28 The Translational Genomics Research Institute Amplicon-based approach for detecting differences in non-human dna fragmentation patterns between cancer and non-cancer samples
KR102630597B1 (ko) * 2023-08-22 2024-01-29 주식회사 지놈인사이트테크놀로지 종양 정보를 활용한 미세 잔존 질환 탐지 방법 및 장치

Family Cites Families (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2006214800B2 (en) * 2005-02-16 2012-06-07 Cy O'connor Erade Village Foundation Methods of genetic analysis involving the amplification of complementary duplicons
EP1712639B1 (en) 2005-04-06 2008-08-27 Maurice Stroun Method for the diagnosis of cancer by detecting circulating DNA and RNA
JP2008173083A (ja) * 2007-01-22 2008-07-31 Nippon Software Management Kk Ｄｎａタグによる生物の同定方法
CA2868836C (en) * 2012-03-26 2019-08-06 The Johns Hopkins University Rapid aneuploidy detection
JP6474058B2 (ja) * 2012-09-13 2019-02-27 御木本製薬株式会社 エンドセリン−１産生抑制剤
DK3201361T3 (da) * 2014-10-01 2020-05-18 Chronix Biomedical Fremgangsmåder til kvantificering af cellefrit DNA
JP6929778B2 (ja) * 2015-01-15 2021-09-01 グッド スタート ジェネティクス， インコーポレイテッド 着床前遺伝子スクリーニングにおける一塩基多型を用いた品質管理方法
US20160275240A1 (en) * 2015-02-18 2016-09-22 Nugen Technologies, Inc. Methods and compositions for pooling amplification primers
US11319594B2 (en) * 2016-08-25 2022-05-03 Resolution Bioscience, Inc. Methods for the detection of genomic copy changes in DNA samples
CN111868260B (zh) * 2017-08-07 2025-02-21 约翰斯霍普金斯大学 用于评估和治疗癌症的方法和材料
EP3969616A2 (en) * 2019-05-17 2022-03-23 The Johns Hopkins University Rapid aneuploidy detection

Also Published As

Publication number Publication date
KR20220021909A (ko) 2022-02-22
EP3969616A2 (en) 2022-03-23
MX2021013834A (es) 2022-06-29
US20220259668A1 (en) 2022-08-18
CL2021003030A1 (es) 2022-10-07
WO2020236625A2 (en) 2020-11-26
CA3140850A1 (en) 2020-11-26
JP2026012754A (ja) 2026-01-27
AU2020279106A1 (en) 2021-12-09
CN114207147A (zh) 2022-03-18
CO2021017009A2 (es) 2022-04-08
AU2026201955A1 (en) 2026-04-16
WO2020236625A3 (en) 2021-02-11
JP2022532761A (ja) 2022-07-19
AU2020279106B2 (en) 2025-12-18
SG11202112680XA (en) 2021-12-30
IL288081A (en) 2022-01-01

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