EA035451B9 - Способ диагностики рака с использованием геномного секвенирования - Google Patents
Способ диагностики рака с использованием геномного секвенированияInfo
- Publication number
- EA035451B9 EA035451B9 EA201600280A EA201600280A EA035451B9 EA 035451 B9 EA035451 B9 EA 035451B9 EA 201600280 A EA201600280 A EA 201600280A EA 201600280 A EA201600280 A EA 201600280A EA 035451 B9 EA035451 B9 EA 035451B9
- Authority
- EA
- Eurasian Patent Office
- Prior art keywords
- biological sample
- cancer
- dna fragments
- malignant tumor
- amount
- Prior art date
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- 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
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- 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
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- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- 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
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- 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
- C12Q1/6869—Methods for sequencing
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- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
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- 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
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- 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
- C12Q1/6888—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for detection or identification of organisms
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- 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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- 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
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- 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/20—Allele or variant detection, e.g. single nucleotide polymorphism [SNP] detection
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- 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
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- C—CHEMISTRY; METALLURGY
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- 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
- C12Q2600/112—Disease subtyping, staging or classification
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- 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
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- 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
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- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/38—Pediatrics
- G01N2800/385—Congenital anomalies
- G01N2800/387—Down syndrome; Trisomy 18; Trisomy 13
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- Y—GENERAL TAGGING OF NEW TECHNOLOGICAL DEVELOPMENTS; GENERAL TAGGING OF CROSS-SECTIONAL TECHNOLOGIES SPANNING OVER SEVERAL SECTIONS OF THE IPC; TECHNICAL SUBJECTS COVERED BY FORMER USPC CROSS-REFERENCE ART COLLECTIONS [XRACs] AND DIGESTS
- Y02—TECHNOLOGIES OR APPLICATIONS FOR MITIGATION OR ADAPTATION AGAINST CLIMATE CHANGE
- Y02A—TECHNOLOGIES FOR ADAPTATION TO CLIMATE CHANGE
- Y02A90/00—Technologies having an indirect contribution to adaptation to climate change
- Y02A90/10—Information and communication technologies [ICT] supporting adaptation to climate change, e.g. for weather forecasting or climate simulation
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- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Organic Chemistry (AREA)
- Physics & Mathematics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Analytical Chemistry (AREA)
- Genetics & Genomics (AREA)
- Zoology (AREA)
- Wood Science & Technology (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Molecular Biology (AREA)
- General Engineering & Computer Science (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Medical Informatics (AREA)
- Evolutionary Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Pathology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Crystallography & Structural Chemistry (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
- Saccharide Compounds (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
Abstract
Воплощения данного изобретения относятся к реализуемому на компьютере способу анализа биологического образца на наличие хромосомных аберраций, ассоциированных с раком, системам и аппаратуре для его осуществления. Биологический образец представляет собой плазму, сыворотку, слюну или мочу, содержащие фрагменты ДНК, происходящие из незлокачественных клеток и потенциально из злокачественных опухолевых клеток. Способ предусматривает получение данных из рандомизированного секвенирования фрагментов ДНК, содержащихся в указанном биологическом образце с определением количества последовательности, которая потенциально делетирована или амплифицирована при злокачественной опухоли, и количества фоновой последовательности. На основании полученных количеств определяют параметр, сравнение которого с одним или несколькими пороговыми значениями позволяет определить, существует ли хромосомная аберрация, ассоциированная с раком, в указанном биологическом образце
Applications Claiming Priority (1)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US95143807P | 2007-07-23 | 2007-07-23 |
Publications (3)
Publication Number | Publication Date |
---|---|
EA201600280A1 EA201600280A1 (ru) | 2016-07-29 |
EA035451B1 EA035451B1 (ru) | 2020-06-18 |
EA035451B9 true EA035451B9 (ru) | 2020-09-09 |
Family
ID=39798126
Family Applications (6)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EA201201551A EA201201551A1 (ru) | 2007-07-23 | 2008-07-23 | Способ диагностики рака с использованием геномного секвенирования |
EA201000231A EA017966B1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
EA201600280A EA035451B9 (ru) | 2007-07-23 | 2008-07-23 | Способ диагностики рака с использованием геномного секвенирования |
EA201300072A EA028642B1 (ru) | 2007-07-23 | 2008-07-23 | Способ пренатальной диагностики фетальной хромосомной анэуплоидии |
EA201791612A EA039167B1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
EA202192446A EA202192446A1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
Family Applications Before (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EA201201551A EA201201551A1 (ru) | 2007-07-23 | 2008-07-23 | Способ диагностики рака с использованием геномного секвенирования |
EA201000231A EA017966B1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
Family Applications After (3)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EA201300072A EA028642B1 (ru) | 2007-07-23 | 2008-07-23 | Способ пренатальной диагностики фетальной хромосомной анэуплоидии |
EA201791612A EA039167B1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
EA202192446A EA202192446A1 (ru) | 2007-07-23 | 2008-07-23 | Диагностика фетальной хромосомной анэуплоидии с использованием геномного секвенирования |
Country Status (26)
Country | Link |
---|---|
US (10) | US20090029377A1 (ru) |
EP (15) | EP2557517B1 (ru) |
JP (16) | JP5519500B2 (ru) |
KR (23) | KR102561664B1 (ru) |
CN (11) | CN103902809B (ru) |
AU (1) | AU2008278839B2 (ru) |
BR (1) | BRPI0814670B8 (ru) |
CA (10) | CA2900927C (ru) |
CY (3) | CY1114773T1 (ru) |
DK (6) | DK2557520T3 (ru) |
EA (6) | EA201201551A1 (ru) |
ES (6) | ES2933486T3 (ru) |
FI (1) | FI2557517T3 (ru) |
HK (5) | HK1177768A1 (ru) |
HR (4) | HRP20230033T3 (ru) |
HU (3) | HUE054639T2 (ru) |
IL (2) | IL203311A (ru) |
LT (2) | LT2557520T (ru) |
MX (3) | MX341573B (ru) |
NZ (2) | NZ600407A (ru) |
PL (4) | PL2514842T3 (ru) |
PT (3) | PT2183693E (ru) |
SG (1) | SG183062A1 (ru) |
SI (4) | SI2183693T2 (ru) |
WO (2) | WO2009013496A1 (ru) |
ZA (1) | ZA201000524B (ru) |
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