BR112019000296A2 - métodos para a determinação de perfil de fragmentome de ácidos nucleicos livres de célula - Google Patents

métodos para a determinação de perfil de fragmentome de ácidos nucleicos livres de célula

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Publication number
BR112019000296A2
BR112019000296A2 BR112019000296-0A BR112019000296A BR112019000296A2 BR 112019000296 A2 BR112019000296 A2 BR 112019000296A2 BR 112019000296 A BR112019000296 A BR 112019000296A BR 112019000296 A2 BR112019000296 A2 BR 112019000296A2
Authority
BR
Brazil
Prior art keywords
cell free
methods
nucleic acid
dna
free nucleic
Prior art date
Application number
BR112019000296-0A
Other languages
English (en)
Inventor
Abdueva Diana
Original Assignee
Guardant Health, 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 Guardant Health, Inc. filed Critical Guardant Health, Inc.
Publication of BR112019000296A2 publication Critical patent/BR112019000296A2/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
    • C12Q1/6876—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
    • 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
    • G16B25/00—ICT specially adapted for hybridisation; ICT specially adapted for gene or protein expression
    • G16B25/10—Gene or protein expression profiling; Expression-ratio estimation or normalisation
    • 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
    • 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
    • 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
    • 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
    • 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
    • G16B30/10—Sequence alignment; Homology search
    • 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
    • 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

Abstract

o presente relatório contempla vários usos de dna livre de célula. os métodos providos aqui podem utilizar informação de sequência em uma macroescala e de maneira global, com ou sem informação de variante somática, para avaliar um perfil de fragmentome que pode ser representativo de um tecido, doença, progressão, etc de origem. em um aspecto, é descrito aqui um método para a determinação da presença ou ausência de uma aberração genética em fragmentos de ácido desoxirribonucleico (dna) de dna livre de célula obtida de um indivíduo, o método compreendendo: (a) a construção de uma distribuição multi-paramétrica dos fragmentos de dna em uma pluralidade de posições de base em um genoma; e (b) sem se considerar uma identidade de base de cada posição de base em um primeiro local, utilizando-se a distribuição multi-paramétrica para determinar a presença ou ausência da aberração genética no primeiro local no indivíduo.
BR112019000296-0A 2016-07-06 2017-07-06 métodos para a determinação de perfil de fragmentome de ácidos nucleicos livres de célula BR112019000296A2 (pt)

Applications Claiming Priority (9)

Application Number Priority Date Filing Date Title
US201662359151P 2016-07-06 2016-07-06
US62/359,151 2016-07-06
US201662420167P 2016-11-10 2016-11-10
US62/420,167 2016-11-10
US201662437172P 2016-12-21 2016-12-21
US62/437,172 2016-12-21
US201762489399P 2017-04-24 2017-04-24
US62/489,399 2017-04-24
PCT/US2017/040986 WO2018009723A1 (en) 2016-07-06 2017-07-06 Methods for fragmentome profiling of cell-free nucleic acids

Publications (1)

Publication Number Publication Date
BR112019000296A2 true BR112019000296A2 (pt) 2019-04-16

Family

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Family Applications (1)

Application Number Title Priority Date Filing Date
BR112019000296-0A BR112019000296A2 (pt) 2016-07-06 2017-07-06 métodos para a determinação de perfil de fragmentome de ácidos nucleicos livres de célula

Country Status (11)

Country Link
EP (2) EP3481966B1 (pt)
JP (2) JP7448310B2 (pt)
KR (1) KR102610098B1 (pt)
CN (1) CN109689891A (pt)
AU (1) AU2017292854B2 (pt)
BR (1) BR112019000296A2 (pt)
CA (1) CA3030038A1 (pt)
ES (1) ES2967443T3 (pt)
MX (1) MX2019000037A (pt)
SG (1) SG11201811556RA (pt)
WO (1) WO2018009723A1 (pt)

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EP3481966A1 (en) 2019-05-15
EP4322168A2 (en) 2024-02-14
JP2022025101A (ja) 2022-02-09
KR102610098B1 (ko) 2023-12-04
SG11201811556RA (en) 2019-01-30
AU2017292854A1 (en) 2019-01-24
AU2017292854B2 (en) 2023-08-17
MX2019000037A (es) 2019-07-10
CA3030038A1 (en) 2018-01-11
EP3481966A4 (en) 2019-08-07
KR20190026837A (ko) 2019-03-13
JP7448310B2 (ja) 2024-03-12
JP2019531700A (ja) 2019-11-07
WO2018009723A1 (en) 2018-01-11
CN109689891A (zh) 2019-04-26
EP3481966B1 (en) 2023-11-08
ES2967443T3 (es) 2024-04-30

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