SG11202011523VA - Gene mutation identification method and apparatus, and storage medium - Google Patents
Gene mutation identification method and apparatus, and storage mediumInfo
- Publication number
- SG11202011523VA SG11202011523VA SG11202011523VA SG11202011523VA SG11202011523VA SG 11202011523V A SG11202011523V A SG 11202011523VA SG 11202011523V A SG11202011523V A SG 11202011523VA SG 11202011523V A SG11202011523V A SG 11202011523VA SG 11202011523V A SG11202011523V A SG 11202011523VA
- Authority
- SG
- Singapore
- Prior art keywords
- storage medium
- identification method
- gene mutation
- mutation identification
- gene
- Prior art date
Links
- 206010064571 Gene mutation Diseases 0.000 title 1
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
- C12N15/1034—Isolating an individual clone by screening libraries
- C12N15/1093—General methods of preparing gene libraries, not provided for in other subgroups
-
- 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
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12N—MICROORGANISMS OR ENZYMES; COMPOSITIONS THEREOF; PROPAGATING, PRESERVING, OR MAINTAINING MICROORGANISMS; MUTATION OR GENETIC ENGINEERING; CULTURE MEDIA
- C12N15/00—Mutation or genetic engineering; DNA or RNA concerning genetic engineering, vectors, e.g. plasmids, or their isolation, preparation or purification; Use of hosts therefor
- C12N15/09—Recombinant DNA-technology
- C12N15/10—Processes for the isolation, preparation or purification of DNA or RNA
- C12N15/1034—Isolating an individual clone by screening libraries
- C12N15/1082—Preparation or screening gene libraries by chromosomal integration of polynucleotide sequences, HR-, site-specific-recombination, transposons, viral vectors
-
- 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
- C40—COMBINATORIAL TECHNOLOGY
- C40B—COMBINATORIAL CHEMISTRY; LIBRARIES, e.g. CHEMICAL LIBRARIES
- C40B40/00—Libraries per se, e.g. arrays, mixtures
- C40B40/04—Libraries containing only organic compounds
- C40B40/06—Libraries containing nucleotides or polynucleotides, or derivatives thereof
- C40B40/08—Libraries containing RNA or DNA which encodes proteins, e.g. gene libraries
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/02—Neural networks
- G06N3/08—Learning methods
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/12—Computing arrangements based on biological models using genetic models
- G06N3/126—Evolutionary algorithms, e.g. genetic algorithms or genetic programming
-
- 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
- G16B40/20—Supervised data analysis
-
- 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
- G16B5/00—ICT specially adapted for modelling or simulations in systems biology, e.g. gene-regulatory networks, protein interaction networks or metabolic networks
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Chemical & Material Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Biophysics (AREA)
- General Health & Medical Sciences (AREA)
- Theoretical Computer Science (AREA)
- Biotechnology (AREA)
- Genetics & Genomics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Molecular Biology (AREA)
- Organic Chemistry (AREA)
- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Spectroscopy & Molecular Physics (AREA)
- General Engineering & Computer Science (AREA)
- Analytical Chemistry (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Data Mining & Analysis (AREA)
- Biomedical Technology (AREA)
- Evolutionary Computation (AREA)
- Software Systems (AREA)
- Artificial Intelligence (AREA)
- Biochemistry (AREA)
- Microbiology (AREA)
- Mathematical Physics (AREA)
- General Physics & Mathematics (AREA)
- Computing Systems (AREA)
- Computational Linguistics (AREA)
- Physiology (AREA)
- Bioethics (AREA)
- Immunology (AREA)
- Public Health (AREA)
- Epidemiology (AREA)
- Databases & Information Systems (AREA)
- Computer Vision & Pattern Recognition (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| CN201910251891.0A CN109994155B (en) | 2019-03-29 | 2019-03-29 | Gene variation identification method, device and storage medium |
| PCT/CN2019/089499 WO2020199336A1 (en) | 2019-03-29 | 2019-05-31 | Genovariation recognition method and apparatus, and storage medium |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| SG11202011523VA true SG11202011523VA (en) | 2020-12-30 |
Family
ID=67131990
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| SG11202011523VA SG11202011523VA (en) | 2019-03-29 | 2019-05-31 | Gene mutation identification method and apparatus, and storage medium |
Country Status (7)
| Country | Link |
|---|---|
| US (1) | US20210082539A1 (en) |
| JP (1) | JP7064654B2 (en) |
| KR (1) | KR20210116454A (en) |
| CN (1) | CN109994155B (en) |
| SG (1) | SG11202011523VA (en) |
| TW (1) | TWI748263B (en) |
| WO (1) | WO2020199336A1 (en) |
Families Citing this family (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN111081318B (en) * | 2019-12-06 | 2023-06-06 | 人和未来生物科技（长沙）有限公司 | Fusion gene detection method, system and medium |
| CN111081313A (en) * | 2019-12-13 | 2020-04-28 | 北京市商汤科技开发有限公司 | Method and apparatus for identifying genetic variation, electronic device, and storage medium |
| CN111081314A (en) * | 2019-12-13 | 2020-04-28 | 北京市商汤科技开发有限公司 | Method and apparatus for identifying genetic variation, electronic device, and storage medium |
| CN111091873B (en) * | 2019-12-13 | 2023-07-18 | 北京市商汤科技开发有限公司 | Gene mutation recognition method and device, electronic equipment and storage medium |
| CN111091867B (en) * | 2019-12-18 | 2021-11-09 | 中国科学院大学 | Gene variation site screening method and system |
| CN111304308A (en) * | 2020-03-02 | 2020-06-19 | 北京泛生子基因科技有限公司 | Method for auditing detection result of high-throughput sequencing gene variation |
| CN113539357B (en) * | 2021-06-10 | 2024-04-30 | 阿里巴巴达摩院(杭州)科技有限公司 | Gene detection method, model training method, device, equipment and system |
| CN113517022B (en) * | 2021-06-10 | 2024-06-25 | 阿里巴巴达摩院(杭州)科技有限公司 | Gene detection method, feature extraction method, device, equipment and system |
| CN113299344A (en) * | 2021-06-23 | 2021-08-24 | 深圳华大医学检验实验室 | Gene sequencing analysis method, gene sequencing analysis device, storage medium and computer equipment |
| CN113628683B (en) * | 2021-08-24 | 2024-04-09 | 慧算医疗科技（上海）有限公司 | High-throughput sequencing mutation detection method, device and apparatus and readable storage medium |
| CN115458052B (en) * | 2022-08-16 | 2023-06-30 | 珠海横琴铂华医学检验有限公司 | Gene mutation analysis method, device and storage medium based on first generation sequencing |
| CN115620802B (en) * | 2022-09-02 | 2023-12-05 | 蔓之研（上海）生物科技有限公司 | Gene data processing method and system |
Family Cites Families (20)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| DK2748192T3 (en) * | 2011-08-23 | 2019-02-25 | Found Medicine Inc | KIF5B-RET-FUSION MOLECULES AND APPLICATIONS THEREOF |
| EP2959011A1 (en) * | 2013-02-19 | 2015-12-30 | Cergentis B.V. | Sequencing strategies for genomic regions of interest |
| CN105408496A (en) * | 2013-03-15 | 2016-03-16 | 夸登特健康公司 | Systems and methods to detect rare mutations and copy number variation |
| KR20160010277A (en) * | 2014-07-18 | 2016-01-27 | 에스케이텔레콤 주식회사 | Method for prediction of fetal monogenic genetic variations through next generation sequencing of maternal cell-free dna |
| CN104293940B (en) * | 2014-09-30 | 2017-07-28 | 天津华大基因科技有限公司 | Build the method and its application of sequencing library |
| CN104462869B (en) * | 2014-11-28 | 2017-12-26 | 天津诺禾致源生物信息科技有限公司 | The method and apparatus for detecting body cell single nucleotide mutation |
| CN105989246B (en) * | 2015-01-28 | 2018-10-26 | 深圳华大智造科技有限公司 | A kind of mutation detection method and device based on genome assembling |
| EP4343788A3 (en) * | 2015-05-01 | 2024-09-11 | Guardant Health, Inc. | Diagnostic methods |
| JP6675164B2 (en) | 2015-07-28 | 2020-04-01 | 株式会社理研ジェネシス | Mutation judgment method, mutation judgment program and recording medium |
| JP6679065B2 (en) | 2015-10-07 | 2020-04-15 | 国立研究開発法人国立がん研究センター | Rare mutation detection method, detection device, and computer program |
| CN105574361B (en) * | 2015-11-05 | 2018-11-02 | 上海序康医疗科技有限公司 | A method of detection genome copies number variation |
| CN106529211A (en) * | 2016-11-04 | 2017-03-22 | 成都鑫云解码科技有限公司 | Variable site obtaining method and apparatus |
| KR101936933B1 (en) * | 2016-11-29 | 2019-01-09 | 연세대학교 산학협력단 | Methods for detecting nucleic acid sequence variations and a device for detecting nucleic acid sequence variations using the same |
| CN106611106B (en) | 2016-12-06 | 2019-05-03 | 北京荣之联科技股份有限公司 | Genetic mutation detection method and device |
| CN106683081B (en) * | 2016-12-17 | 2020-10-30 | 复旦大学 | Brain glioma molecular marker nondestructive prediction method and system based on image omics |
| KR102035615B1 (en) | 2017-08-07 | 2019-10-23 | 연세대학교 산학협력단 | A methods for detecting nucleic acid sequence variations based on gene panels and a device for detecting nucleic acid sequence variations using the same |
| CN108021788B (en) * | 2017-12-06 | 2022-08-05 | 北京新合睿恩生物医疗科技有限公司 | Method and device for extracting biomarkers based on deep sequencing data of cell free DNA |
| CN107944228B (en) * | 2017-12-08 | 2021-06-01 | 广州漫瑞生物信息技术有限公司 | Visualization method for gene sequencing variation site |
| EP3587586A1 (en) * | 2018-06-22 | 2020-01-01 | Julius-Maximilians-Universität Würzburg | Method for statistically determining a quantification of old and new rna |
| CN109326316B (en) * | 2018-09-18 | 2020-10-09 | 哈尔滨工业大学（深圳） | Multilayer network model construction method and application of interaction of cancer-related SNP, gene, miRNA and protein |
-
2019
- 2019-03-29 CN CN201910251891.0A patent/CN109994155B/en active Active
- 2019-05-31 WO PCT/CN2019/089499 patent/WO2020199336A1/en active Application Filing
- 2019-05-31 SG SG11202011523VA patent/SG11202011523VA/en unknown
- 2019-05-31 JP JP2021514554A patent/JP7064654B2/en active Active
- 2019-05-31 KR KR1020217020204A patent/KR20210116454A/en not_active Application Discontinuation
- 2019-10-16 TW TW108137265A patent/TWI748263B/en active
-
2020
- 2020-11-23 US US17/102,136 patent/US20210082539A1/en not_active Abandoned
Also Published As
| Publication number | Publication date |
|---|---|
| JP2022500773A (en) | 2022-01-04 |
| WO2020199336A1 (en) | 2020-10-08 |
| CN109994155B (en) | 2021-08-20 |
| US20210082539A1 (en) | 2021-03-18 |
| JP7064654B2 (en) | 2022-05-10 |
| TWI748263B (en) | 2021-12-01 |
| TW202036582A (en) | 2020-10-01 |
| KR20210116454A (en) | 2021-09-27 |
| CN109994155A (en) | 2019-07-09 |
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