BR112018076983A2 - 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 nucleotídeosInfo
- Publication number
- BR112018076983A2 BR112018076983A2 BR112018076983-5A BR112018076983A BR112018076983A2 BR 112018076983 A2 BR112018076983 A2 BR 112018076983A2 BR 112018076983 A BR112018076983 A BR 112018076983A BR 112018076983 A2 BR112018076983 A2 BR 112018076983A2
- Authority
- BR
- Brazil
- Prior art keywords
- secondary analysis
- sequence
- sequencing data
- nucleotide sequencing
- variants
- Prior art date
Links
- 238000004458 analytical method Methods 0.000 title abstract 4
- 239000002773 nucleotide Substances 0.000 title abstract 3
- 125000003729 nucleotide group Chemical group 0.000 title abstract 3
- 238000012163 sequencing technique Methods 0.000 title abstract 3
- 238000000034 method Methods 0.000 title abstract 2
- 238000001514 detection method Methods 0.000 abstract 2
- 230000008711 chromosomal rearrangement Effects 0.000 abstract 1
- 238000012217 deletion Methods 0.000 abstract 1
- 230000037430 deletion Effects 0.000 abstract 1
- 230000002068 genetic effect Effects 0.000 abstract 1
- 238000003205 genotyping method Methods 0.000 abstract 1
- 238000003780 insertion Methods 0.000 abstract 1
- 230000037431 insertion Effects 0.000 abstract 1
- 102000054765 polymorphisms of proteins Human genes 0.000 abstract 1
Classifications
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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
- G16B30/10—Sequence alignment; Homology search
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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
- 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
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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
- 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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- 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
- G16B20/20—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
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Analytical Chemistry (AREA)
- Evolutionary Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Bioinformatics & Computational Biology (AREA)
- Organic Chemistry (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Data Mining & Analysis (AREA)
- Immunology (AREA)
- Microbiology (AREA)
- General Engineering & Computer Science (AREA)
- Biochemistry (AREA)
- Epidemiology (AREA)
- Databases & Information Systems (AREA)
- Software Systems (AREA)
- Computer Vision & Pattern Recognition (AREA)
- Bioethics (AREA)
- Artificial Intelligence (AREA)
- Evolutionary Computation (AREA)
- Public Health (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
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.
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 (3)
| Publication Number | Publication Date |
|---|---|
| BR112018076983A2 true BR112018076983A2 (pt) | 2019-04-16 |
| BR112018076983A8 BR112018076983A8 (pt) | 2023-10-10 |
| BR112018076983B1 BR112018076983B1 (pt) | 2024-08-06 |
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Legal Events
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| 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] |
Free format text: O PEDIDO FOI DIVIDIDO NO BR122023004154-2 PROTOCOLO 870230019077 EM 06/03/2023 15:21. |
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| B09A | Decision: intention to grant [chapter 9.1 patent gazette] | ||
| B15K | Others concerning applications: alteration of classification |
Free format text: AS CLASSIFICACOES ANTERIORES ERAM: G06F 19/18 , G06F 19/22 Ipc: G16B 20/20 (2019.01), G16B 30/10 (2019.01), G16B 2 |
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| B16A | Patent or certificate of addition of invention granted [chapter 16.1 patent gazette] |
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