BR112018076983A8 - Sistema e método para análise secundária de dados de sequenciamento de nucleotídeos - Google Patents

Sistema e método para análise secundária de dados de sequenciamento de nucleotídeos

Info

Publication number
BR112018076983A8
BR112018076983A8 BR112018076983A BR112018076983A BR112018076983A8 BR 112018076983 A8 BR112018076983 A8 BR 112018076983A8 BR 112018076983 A BR112018076983 A BR 112018076983A BR 112018076983 A BR112018076983 A BR 112018076983A BR 112018076983 A8 BR112018076983 A8 BR 112018076983A8
Authority
BR
Brazil
Prior art keywords
secondary analysis
sequencing data
sequence
nucleotide sequencing
variants
Prior art date
Application number
BR112018076983A
Other languages
English (en)
Other versions
BR112018076983A2 (pt
Inventor
Aaron Day
Come Raczy
Jose Garcia Francisco
J Carney Michael
Original Assignee
Illumina 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 Illumina Inc filed Critical Illumina Inc
Priority to BR122023004154-2A priority Critical patent/BR122023004154A2/pt
Publication of BR112018076983A2 publication Critical patent/BR112018076983A2/pt
Publication of BR112018076983A8 publication Critical patent/BR112018076983A8/pt

Links

Classifications

    • 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
    • G16B30/00—ICT specially adapted for sequence analysis involving nucleotides or amino acids
    • 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
    • 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
    • C12Q1/6869—Methods for sequencing
    • 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
    • G16B20/20—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
    • G16B30/20—Sequence assembly
    • 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
    • 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
    • G16B40/30—Unsupervised data analysis

Abstract

são divulgados aqui sistemas e métodos para realização de análises secundárias de dados de sequenciamento de nucleotídeos de uma maneira eficiente em relação ao tempo. algumas modalidades incluem a realização de uma análise secundária de forma iterativa enquanto as leituras de sequência são geradas por um sistema de sequenciamento. as análises secundárias podem abranger tanto o alinhamento de leituras de sequência com uma sequência de referência (por exemplo, a sequência do genoma humano de referência) quanto a utilização deste alinhamento para detectar diferenças entre uma amostra e a referência. a análise secundária pode permitir a detecção de diferenças genéticas, a detecção e a genotipagem de variantes, a identificação de polimorfismos de nucleotídeo único (snps), inserções e deleções pequenas (indels) e alterações estruturais no dna, tais como variantes de número de cópias (cnvs) e rearranjos cromossômicos.
BR112018076983A 2016-10-07 2017-10-06 Sistema e método para análise secundária de dados de sequenciamento de nucleotídeos BR112018076983A8 (pt)

Priority Applications (1)

Application Number Priority Date Filing Date Title
BR122023004154-2A BR122023004154A2 (pt) 2016-10-07 2017-10-06 Sistemas para sequenciar polinucleotídeos e métodos implementados por computador para determinar sequência de polinucleotídeo com subsequências de nucleotídeos e para sequenciar polinucleotídeos

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US201662405824P 2016-10-07 2016-10-07
US62/405,824 2016-10-07
PCT/US2017/055653 WO2018068014A1 (en) 2016-10-07 2017-10-06 System and method for secondary analysis of nucleotide sequencing data

Publications (2)

Publication Number Publication Date
BR112018076983A2 BR112018076983A2 (pt) 2019-04-16
BR112018076983A8 true BR112018076983A8 (pt) 2023-10-10

Family

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Family Applications (2)

Application Number Title Priority Date Filing Date
BR112018076983A BR112018076983A8 (pt) 2016-10-07 2017-10-06 Sistema e método para análise secundária de dados de sequenciamento de nucleotídeos
BR122023004154-2A BR122023004154A2 (pt) 2016-10-07 2017-10-06 Sistemas para sequenciar polinucleotídeos e métodos implementados por computador para determinar sequência de polinucleotídeo com subsequências de nucleotídeos e para sequenciar polinucleotídeos

Family Applications After (1)

Application Number Title Priority Date Filing Date
BR122023004154-2A BR122023004154A2 (pt) 2016-10-07 2017-10-06 Sistemas para sequenciar polinucleotídeos e métodos implementados por computador para determinar sequência de polinucleotídeo com subsequências de nucleotídeos e para sequenciar polinucleotídeos

Country Status (15)

Country Link
US (2) US11646102B2 (pt)
EP (1) EP3458993A1 (pt)
JP (3) JP6898441B2 (pt)
KR (3) KR102384832B1 (pt)
CN (2) CN115810396A (pt)
AU (3) AU2017341069A1 (pt)
BR (2) BR112018076983A8 (pt)
CA (1) CA3027179C (pt)
IL (2) IL300135B1 (pt)
MX (2) MX2018015412A (pt)
MY (1) MY193917A (pt)
RU (1) RU2741807C2 (pt)
SG (2) SG11201810924WA (pt)
WO (1) WO2018068014A1 (pt)
ZA (2) ZA201808277B (pt)

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US11286531B2 (en) 2015-08-11 2022-03-29 The Johns Hopkins University Assaying ovarian cyst fluid
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EP3665308A1 (en) 2017-08-07 2020-06-17 The Johns Hopkins University Methods and materials for assessing and treating cancer
SG11202012439SA (en) 2019-05-24 2021-01-28 Illumina Inc Flexible seed extension for hash table genomic mapping
KR102292599B1 (ko) * 2019-11-06 2021-08-23 주식회사 뷰웍스 광학 분석 장치 및 광학 분석 방법
US20210285043A1 (en) * 2020-03-11 2021-09-16 Illumina, Inc. Incremental secondary analysis of nucleic acid sequences
CN113436683A (zh) * 2020-03-23 2021-09-24 北京合生基因科技有限公司 筛选候选插入片段的方法和系统
AU2022202798A1 (en) * 2021-05-26 2022-12-15 Genieus Genomics Pty Ltd Processing sequencing data relating to amyotrophic lateral sclerosis
CN113299344A (zh) * 2021-06-23 2021-08-24 深圳华大医学检验实验室 基因测序分析方法、装置、存储介质和计算机设备
WO2024081805A1 (en) * 2022-10-13 2024-04-18 Element Biosciences, Inc. Separating sequencing data in parallel with a sequencing run in next generation sequencing data analysis

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Also Published As

Publication number Publication date
RU2018143972A (ru) 2020-06-15
KR20190017825A (ko) 2019-02-20
SG11201810924WA (en) 2019-01-30
CN109416927B (zh) 2023-05-02
CA3027179A1 (en) 2018-04-12
AU2020207826B2 (en) 2021-09-09
RU2018143972A3 (pt) 2020-06-15
KR102384832B1 (ko) 2022-04-08
JP2022060425A (ja) 2022-04-14
AU2020207826A1 (en) 2020-08-13
SG10201911912XA (en) 2020-02-27
MY193917A (en) 2022-11-01
RU2741807C2 (ru) 2021-01-28
MX2022011757A (es) 2022-10-18
BR122023004154A2 (pt) 2023-10-10
CN115810396A (zh) 2023-03-17
IL300135A (en) 2023-03-01
MX2018015412A (es) 2019-05-27
JP7051937B2 (ja) 2022-04-11
CA3027179C (en) 2023-06-27
IL263512B2 (en) 2023-09-01
JP2019522861A (ja) 2019-08-15
EP3458993A1 (en) 2019-03-27
BR112018076983A2 (pt) 2019-04-16
KR102515638B1 (ko) 2023-03-29
AU2021277671A1 (en) 2021-12-23
US20190385699A1 (en) 2019-12-19
WO2018068014A9 (en) 2018-08-30
WO2018068014A1 (en) 2018-04-12
ZA202101720B (en) 2023-05-31
IL263512B1 (en) 2023-05-01
AU2017341069A1 (en) 2019-01-24
AU2021277671B2 (en) 2023-10-12
IL300135B1 (en) 2024-02-01
JP2020144936A (ja) 2020-09-10
US20230410945A1 (en) 2023-12-21
JP7387777B2 (ja) 2023-11-28
KR20220047887A (ko) 2022-04-19
KR20230044335A (ko) 2023-04-03
IL263512A (en) 2019-03-31
JP6898441B2 (ja) 2021-07-07
US11646102B2 (en) 2023-05-09
CN109416927A (zh) 2019-03-01
ZA201808277B (en) 2022-06-29

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Legal Events

Date Code Title Description
B350 Update of information on the portal [chapter 15.35 patent gazette]
B06W Patent application suspended after preliminary examination (for patents with searches from other patent authorities) chapter 6.23 patent gazette]
B154 Notification of filing of divisional application [chapter 15.50 patent gazette]

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