HK1215454A1 - 確定樣本基因組中是否存在拷貝數變異的方法、系統和計算機可讀介質 - Google Patents
確定樣本基因組中是否存在拷貝數變異的方法、系統和計算機可讀介質Info
- Publication number
- HK1215454A1 HK1215454A1 HK16103403.7A HK16103403A HK1215454A1 HK 1215454 A1 HK1215454 A1 HK 1215454A1 HK 16103403 A HK16103403 A HK 16103403A HK 1215454 A1 HK1215454 A1 HK 1215454A1
- Authority
- HK
- Hong Kong
- Prior art keywords
- computer readable
- readable medium
- determining whether
- copy number
- number variation
- Prior art date
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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/10—Ploidy or copy number detection
-
- 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
- C12Q1/6844—Nucleic acid amplification reactions
-
- 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
- C12Q1/6809—Methods for determination or identification of nucleic acids involving differential detection
-
- 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
- G06—COMPUTING; CALCULATING OR COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F30/00—Computer-aided design [CAD]
- G06F30/20—Design optimisation, verification or simulation
-
- 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
- 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)
- Chemical & Material Sciences (AREA)
- Physics & Mathematics (AREA)
- Engineering & Computer Science (AREA)
- Health & Medical Sciences (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- Biotechnology (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Organic Chemistry (AREA)
- Theoretical Computer Science (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Molecular Biology (AREA)
- Genetics & Genomics (AREA)
- General Engineering & Computer Science (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Immunology (AREA)
- Evolutionary Computation (AREA)
- Computer Hardware Design (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Geometry (AREA)
- General Physics & Mathematics (AREA)
- Physiology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Investigating Or Analysing Biological Materials (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2012/070680 WO2013107048A1 (zh) | 2012-01-20 | 2012-01-20 | 确定样本基因组中是否存在拷贝数变异的方法、系统和计算机可读介质 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| HK1215454A1 true HK1215454A1 (zh) | 2016-08-26 |
Family
ID=48798533
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| HK16103403.7A HK1215454A1 (zh) | 2012-01-20 | 2016-03-23 | 確定樣本基因組中是否存在拷貝數變異的方法、系統和計算機可讀介質 |
Country Status (11)
| Country | Link |
|---|---|
| US (1) | US20150012252A1 (zh) |
| EP (1) | EP2826865B8 (zh) |
| JP (1) | JP5938484B2 (zh) |
| KR (1) | KR101770884B1 (zh) |
| CN (1) | CN105392894B (zh) |
| AU (1) | AU2012366077B2 (zh) |
| HK (1) | HK1215454A1 (zh) |
| IL (1) | IL233691B (zh) |
| RU (1) | RU2593708C2 (zh) |
| SG (1) | SG11201404079SA (zh) |
| WO (1) | WO2013107048A1 (zh) |
Families Citing this family (22)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN107111692B (zh) | 2014-10-10 | 2021-10-29 | 生命科技股份有限公司 | 用于计算经校正扩增子覆盖度的方法、系统及计算机可读媒体 |
| WO2017161201A1 (en) * | 2016-03-16 | 2017-09-21 | Cynvenio Biosystems Inc. | Cancer detection assay and related compositions, methods and systems |
| CN108090325B (zh) * | 2016-11-23 | 2022-01-25 | 中国科学院昆明动物研究所 | 一种应用β-稳定性分析单细胞测序数据的方法 |
| CN109097457A (zh) * | 2017-06-20 | 2018-12-28 | 深圳华大智造科技有限公司 | 确定核酸样本中预定位点突变类型的方法 |
| CN107590362B (zh) * | 2017-08-21 | 2019-12-06 | 武汉菲沙基因信息有限公司 | 一种基于长读序测序判断重叠组装正误的方法 |
| CN108251532B (zh) * | 2018-03-29 | 2021-12-28 | 上海锐翌生物科技有限公司 | 基于ngs技术的粪便dna结直肠肿瘤多基因预测模型 |
| CN108573125B (zh) * | 2018-04-19 | 2022-05-13 | 上海亿康医学检验所有限公司 | 一种基因组拷贝数变异的检测方法及包含该方法的装置 |
| CN112639129A (zh) * | 2018-09-03 | 2021-04-09 | 深圳华大智造科技有限公司 | 确定新发突变在胚胎中的遗传状态的方法和装置 |
| CN111379032A (zh) * | 2018-12-28 | 2020-07-07 | 北京贝瑞和康生物技术有限公司 | 一种用于构建同时实现基因组拷贝数变异检测和基因突变检测的测序文库的方法和试剂盒 |
| CN111383717A (zh) * | 2018-12-29 | 2020-07-07 | 北京安诺优达医学检验实验室有限公司 | 一种构建生物信息分析参照数据集的方法及系统 |
| CN111916150A (zh) * | 2019-05-10 | 2020-11-10 | 北京贝瑞和康生物技术有限公司 | 一种基因组拷贝数变异的检测方法和装置 |
| WO2021114139A1 (zh) * | 2019-12-11 | 2021-06-17 | 深圳华大基因股份有限公司 | 一种基于血液循环肿瘤dna的拷贝数变异检测方法和装置 |
| CN111968701B (zh) * | 2020-08-27 | 2022-10-04 | 北京吉因加科技有限公司 | 检测指定基因组区域体细胞拷贝数变异的方法和装置 |
| CN112562787B (zh) * | 2020-12-03 | 2021-09-07 | 江苏先声医学诊断有限公司 | 一种基于ngs平台的基因大片段重排检测方法 |
| CN114220481B (zh) * | 2021-11-25 | 2023-09-08 | 深圳思勤医疗科技有限公司 | 基于全基因组测序完成待测样本的核型分析的方法、系统和计算机可读介质 |
| CN114999573B (zh) * | 2022-04-14 | 2023-07-07 | 哈尔滨因极科技有限公司 | 一种基因组变异检测方法及检测系统 |
| CN114792548B (zh) * | 2022-06-14 | 2022-09-09 | 北京贝瑞和康生物技术有限公司 | 校正测序数据、检测拷贝数变异的方法、设备和介质 |
| CN114758720B (zh) * | 2022-06-14 | 2022-09-02 | 北京贝瑞和康生物技术有限公司 | 用于检测拷贝数变异的方法、设备和介质 |
| CN115579054B (zh) * | 2022-11-17 | 2023-06-02 | 北京大学 | 单细胞拷贝数变异探测方法、装置、设备及介质 |
| CN116240273B (zh) * | 2023-04-19 | 2023-08-15 | 北京优迅医学检验实验室有限公司 | 一种基于低深度全基因组测序的判断母源污染比例的方法及其应用 |
| CN116863998B (zh) * | 2023-06-21 | 2024-04-05 | 扬州大学 | 一种基于遗传算法的全基因组预测方法及其应用 |
| CN117116344A (zh) * | 2023-10-25 | 2023-11-24 | 北京大学第三医院（北京大学第三临床医学院） | 一种单细胞水平pmp22重复变异的检测系统和方法 |
Family Cites Families (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| US20030082606A1 (en) * | 2001-09-04 | 2003-05-01 | Lebo Roger V. | Optimizing genome-wide mutation analysis of chromosomes and genes |
| ATE449193T1 (de) * | 2006-04-12 | 2009-12-15 | Medical Res Council | Verfahren zur bestimmung der kopienummer |
| US7702468B2 (en) * | 2006-05-03 | 2010-04-20 | Population Diagnostics, Inc. | Evaluating genetic disorders |
| PT2562268T (pt) * | 2008-09-20 | 2017-03-29 | Univ Leland Stanford Junior | Diagnóstico não invasivo de aneuploidia fetal por sequenciação |
| US10072287B2 (en) | 2009-09-10 | 2018-09-11 | Centrillion Technology Holdings Corporation | Methods of targeted sequencing |
| EP2513341B1 (en) * | 2010-01-19 | 2017-04-12 | Verinata Health, Inc | Identification of polymorphic sequences in mixtures of genomic dna by whole genome sequencing |
| EP2591433A4 (en) * | 2010-07-06 | 2017-05-17 | Life Technologies Corporation | Systems and methods to detect copy number variation |
| EP2772549B8 (en) * | 2011-12-31 | 2019-09-11 | BGI Genomics Co., Ltd. | Method for detecting genetic variation |
-
2012
- 2012-01-20 KR KR1020147023080A patent/KR101770884B1/ko active IP Right Grant
- 2012-01-20 US US14/373,072 patent/US20150012252A1/en not_active Abandoned
- 2012-01-20 WO PCT/CN2012/070680 patent/WO2013107048A1/zh active Application Filing
- 2012-01-20 EP EP12865785.5A patent/EP2826865B8/en active Active
- 2012-01-20 AU AU2012366077A patent/AU2012366077B2/en active Active
- 2012-01-20 RU RU2014134175/10A patent/RU2593708C2/ru active IP Right Revival
- 2012-01-20 SG SG11201404079SA patent/SG11201404079SA/en unknown
- 2012-01-20 CN CN201280067240.2A patent/CN105392894B/zh active Active
- 2012-01-20 JP JP2014552471A patent/JP5938484B2/ja active Active
-
2014
- 2014-07-17 IL IL233691A patent/IL233691B/en active IP Right Grant
-
2016
- 2016-03-23 HK HK16103403.7A patent/HK1215454A1/zh unknown
Also Published As
| Publication number | Publication date |
|---|---|
| WO2013107048A1 (zh) | 2013-07-25 |
| KR20140114442A (ko) | 2014-09-26 |
| RU2014134175A (ru) | 2016-03-20 |
| EP2826865B8 (en) | 2017-08-16 |
| KR101770884B1 (ko) | 2017-09-05 |
| US20150012252A1 (en) | 2015-01-08 |
| CN105392894A (zh) | 2016-03-09 |
| CN105392894B (zh) | 2018-05-29 |
| AU2012366077A1 (en) | 2014-08-07 |
| JP5938484B2 (ja) | 2016-06-22 |
| EP2826865A4 (en) | 2015-05-27 |
| IL233691B (en) | 2019-01-31 |
| SG11201404079SA (en) | 2014-10-30 |
| EP2826865A1 (en) | 2015-01-21 |
| AU2012366077B2 (en) | 2016-01-21 |
| EP2826865B1 (en) | 2017-06-21 |
| IL233691A0 (en) | 2014-09-30 |
| JP2015506684A (ja) | 2015-03-05 |
| RU2593708C2 (ru) | 2016-08-10 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| HK1215454A1 (zh) | 確定樣本基因組中是否存在拷貝數變異的方法、系統和計算機可讀介質 | |
| EP2835752B8 (en) | Method and system for detecting copy number variation | |
| GB2513747B (en) | System and method for detecting malware in documents | |
| EP2919093A4 (en) | METHOD, SYSTEM AND COMPUTER FOR OBJECT IDENTIFICATION IN INCREASED REALITY | |
| ZA201406837B (en) | Face calibration method and system, and computer storage medium | |
| PL3044323T3 (pl) | Sposoby wykrywania i ilościowego oznaczania białka komórki gospodarza w liniach komórkowych | |
| BR112013030816A2 (pt) | sistema para teste de segurança automatizado, método para teste de segurança automatizado e mídia não transitória lida por computador | |
| GB201214116D0 (en) | Method and system for data transfer optimisation | |
| HK1196401A1 (zh) | 確定胎兒基因組中預定區域鹼基信息的方法、系統和計算機可讀介質 | |
| EP2688039A4 (en) | PICTURE CONTROL DEVICE, PICTURE PROCESSING SYSTEM, PICTURE TEST PROGRAM, COMPUTER READABLE RECORDING MEDIUM AND PICTURE TESTING METHOD | |
| EP2821977A4 (en) | HOST CALCULATOR, SYSTEM FOR DETERMINING ITS OPERABILITY, METHOD FOR DETERMINING ITS OPERABILITY AND PROGRAM FOR DETERMINING ITS OPERABILITY | |
| GB2508981B (en) | Image reading apparatus, image reading method, computer program and storage medium | |
| EP3008028A4 (en) | System, method and computer readable medium for rapid dna identification | |
| EP2884406A4 (en) | SYSTEM AND METHOD FOR INFORMATION ANALYSIS IN A NETWORK TRANSACTION | |
| EP2788894A4 (en) | SYSTEM AND METHOD FOR PERFORMING AN ANALYSIS ON INFORMATION SUCH AS SOCIAL MEDIA | |
| HK1207887A1 (zh) | 用於測定 破壞的測定、方法和裝置 | |
| EP2857975A4 (en) | PARALLEL DATA PROCESSING SYSTEM, COMPUTER, AND METHOD FOR PARALLEL DATA PROCESSING | |
| EP2915075A4 (en) | METHOD, DEVICE AND COMPUTER PROGRAM FOR DETECTING DEVIATIONS IN DATA SOURCES | |
| HK1213945A1 (zh) | 確定胚胎基因組中預定區域碱基信息的方法、系統和計算機可讀介質 | |
| SG11201500203YA (en) | Method and apparatus for determining virus-infected files | |
| EP2746963A4 (en) | METHOD AND SYSTEM FOR IDENTIFYING FILE TYPES | |
| HK1168931A1 (zh) | 訂單文件中訂單標識信息的識別方法、系統及裝置 | |
| HK1197084A1 (zh) | 確定生物樣本中染色體數目異常的方法、系統和計算機可讀介質 | |
| EP2993822A4 (en) | METHOD, SYSTEM, AND COMPUTER MEDIA FOR DETECTION OF "ZOMBIE CAN" | |
| SG11201406563YA (en) | Processing apparatus, processing method, program, computer readable information recording medium and processing system |