MX2018015412A - Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido. - Google Patents

Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido.

Info

Publication number
MX2018015412A
MX2018015412A MX2018015412A MX2018015412A MX2018015412A MX 2018015412 A MX2018015412 A MX 2018015412A MX 2018015412 A MX2018015412 A MX 2018015412A MX 2018015412 A MX2018015412 A MX 2018015412A MX 2018015412 A MX2018015412 A MX 2018015412A
Authority
MX
Mexico
Prior art keywords
secondary analysis
sequence
sequencing data
alignment
nucleotide sequencing
Prior art date
Application number
MX2018015412A
Other languages
English (en)
Inventor
Jose Garcia Francisco
Raczy Come
Day Aaron
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
Publication of MX2018015412A publication Critical patent/MX2018015412A/es

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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

Se describen aquí sistemas y métodos para efectuar el análisis secundario de datos de secuenciamiento de nucleótidos en una forma eficiente con respecto al tiempo. Algunas modalidades incluyen efectuar un análisis secundario iterativamente mientras son generadas lecturas de secuencia por un sistema de secuenciamiento. Los análisis secundarios pueden abarcar tanto la alineación de lecturas de secuencia con una secuencia de referencia (por ejemplo, la secuencia del genoma de referencia humano) como la utilización de esta alineación para detectar diferencias entre una muestra y la referencia. El análisis secundario puede permitir la detección de diferencias genéticas, detección de variantes y genotipificación, identificación de polimorfismos de nucleótidos simples (SNPs), inserciones y supresiones pequeñas (indels) y cambios estructurales en el ADN, como variantes en el número de copias (CNVs) y rearreglos cromosomales.
MX2018015412A 2016-10-07 2017-10-06 Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido. MX2018015412A (es)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201662405824P 2016-10-07 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 (1)

Publication Number Publication Date
MX2018015412A true MX2018015412A (es) 2019-05-27

Family

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Family Applications (2)

Application Number Title Priority Date Filing Date
MX2018015412A MX2018015412A (es) 2016-10-07 2017-10-06 Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido.
MX2022011757A MX2022011757A (es) 2016-10-07 2018-12-11 Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido.

Family Applications After (1)

Application Number Title Priority Date Filing Date
MX2022011757A MX2022011757A (es) 2016-10-07 2018-12-11 Sistema y metodo para analisis secundario de datos de secuenciamiento de nucleotido.

Country Status (15)

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US (2) US11646102B2 (es)
EP (1) EP3458993A1 (es)
JP (3) JP6898441B2 (es)
KR (3) KR102384832B1 (es)
CN (2) CN109416927B (es)
AU (3) AU2017341069A1 (es)
BR (2) BR112018076983A8 (es)
CA (1) CA3027179C (es)
IL (2) IL263512B2 (es)
MX (2) MX2018015412A (es)
MY (1) MY193917A (es)
RU (1) RU2741807C2 (es)
SG (2) SG10201911912XA (es)
WO (1) WO2018068014A1 (es)
ZA (2) ZA201808277B (es)

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WO2017027653A1 (en) 2015-08-11 2017-02-16 The Johns Hopkins University Assaying ovarian cyst fluid
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JP7232476B2 (ja) 2017-08-07 2023-03-08 ザ ジョンズ ホプキンス ユニバーシティ がんを評価及び治療するための方法及び物質
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KR102292599B1 (ko) * 2019-11-06 2021-08-23 주식회사 뷰웍스 광학 분석 장치 및 광학 분석 방법
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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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Publication number Publication date
AU2020207826B2 (en) 2021-09-09
MX2022011757A (es) 2022-10-18
BR122023004154A2 (pt) 2023-10-10
KR20190017825A (ko) 2019-02-20
CN109416927B (zh) 2023-05-02
SG10201911912XA (en) 2020-02-27
AU2021277671A1 (en) 2021-12-23
KR102515638B1 (ko) 2023-03-29
MY193917A (en) 2022-11-01
JP2020144936A (ja) 2020-09-10
WO2018068014A1 (en) 2018-04-12
US20190385699A1 (en) 2019-12-19
JP6898441B2 (ja) 2021-07-07
US11646102B2 (en) 2023-05-09
CN109416927A (zh) 2019-03-01
JP2022060425A (ja) 2022-04-14
BR112018076983A2 (pt) 2019-04-16
RU2018143972A (ru) 2020-06-15
IL300135B1 (en) 2024-02-01
KR102384832B1 (ko) 2022-04-08
ZA202101720B (en) 2023-05-31
BR112018076983A8 (pt) 2023-10-10
IL263512B1 (en) 2023-05-01
AU2021277671B2 (en) 2023-10-12
AU2017341069A1 (en) 2019-01-24
RU2741807C2 (ru) 2021-01-28
IL263512B2 (en) 2023-09-01
CA3027179A1 (en) 2018-04-12
JP7051937B2 (ja) 2022-04-11
ZA201808277B (en) 2022-06-29
CA3027179C (en) 2023-06-27
KR20220047887A (ko) 2022-04-19
CN115810396A (zh) 2023-03-17
KR20230044335A (ko) 2023-04-03
AU2020207826A1 (en) 2020-08-13
WO2018068014A9 (en) 2018-08-30
US20230410945A1 (en) 2023-12-21
IL300135A (en) 2023-03-01
JP2019522861A (ja) 2019-08-15
IL263512A (en) 2019-03-31
RU2018143972A3 (es) 2020-06-15
JP7387777B2 (ja) 2023-11-28
SG11201810924WA (en) 2019-01-30
EP3458993A1 (en) 2019-03-27

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