CN104302781B - 一种检测染色体结构异常的方法及装置 - Google Patents
一种检测染色体结构异常的方法及装置 Download PDFInfo
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- G—PHYSICS
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- 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
- 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
- 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
Abstract
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PCT/CN2013/075622 WO2014183270A1 (zh) | 2013-05-15 | 2013-05-15 | 一种检测染色体结构异常的方法及装置 |
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CN104302781A CN104302781A (zh) | 2015-01-21 |
CN104302781B true CN104302781B (zh) | 2016-09-14 |
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CN201380004734.0A Active CN104302781B (zh) | 2013-05-15 | 2013-05-15 | 一种检测染色体结构异常的方法及装置 |
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US (1) | US11004538B2 (zh) |
EP (1) | EP2998407B2 (zh) |
CN (1) | CN104302781B (zh) |
ES (1) | ES2766860T5 (zh) |
HU (1) | HUE047501T2 (zh) |
PL (1) | PL2998407T5 (zh) |
RU (1) | RU2654575C2 (zh) |
WO (1) | WO2014183270A1 (zh) |
Cited By (2)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN107058465A (zh) * | 2016-10-14 | 2017-08-18 | 南方科技大学 | 一种利用单倍体测序技术检测染色体平衡易位的方法 |
CN109280702A (zh) * | 2017-07-21 | 2019-01-29 | 深圳华大基因研究院 | 确定个体染色体结构异常的方法和系统 |
Families Citing this family (14)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US11004538B2 (en) | 2013-05-15 | 2021-05-11 | Bgi Genomics Co., Ltd. | Method and device for detecting chromosomal structural abnormalities |
WO2016090583A1 (zh) * | 2014-12-10 | 2016-06-16 | 深圳华大基因研究院 | 测序数据处理装置和方法 |
CN107075564A (zh) * | 2014-12-10 | 2017-08-18 | 深圳华大基因研究院 | 确定肿瘤核酸浓度的方法和装置 |
CN107077538B (zh) * | 2014-12-10 | 2020-08-07 | 深圳华大生命科学研究院 | 测序数据处理装置和方法 |
CN107688727B (zh) * | 2016-08-05 | 2020-07-14 | 深圳华大基因股份有限公司 | 生物序列聚类和全长转录组中转录本亚型识别方法和装置 |
CN106845155B (zh) * | 2016-12-29 | 2021-11-16 | 安诺优达基因科技(北京)有限公司 | 一种用于检测内部串联重复的装置 |
CN106709276A (zh) * | 2017-01-21 | 2017-05-24 | 深圳昆腾生物信息有限公司 | 一种基因变异成因分析方法及系统 |
CN108830044B (zh) * | 2018-06-05 | 2020-06-26 | 序康医疗科技(苏州)有限公司 | 用于检测癌症样本基因融合的检测方法和装置 |
CN109887547B (zh) * | 2019-03-06 | 2020-10-02 | 苏州浪潮智能科技有限公司 | 一种基因序列比对滤波加速处理方法、系统及装置 |
CN111583996B (zh) * | 2020-04-20 | 2023-03-28 | 西安交通大学 | 一种模型非依赖的基因组结构变异检测系统及方法 |
CN112687341B (zh) * | 2021-03-12 | 2021-06-04 | 上海思路迪医学检验所有限公司 | 一种以断点为中心的染色体结构变异鉴定方法 |
CN114743594B (zh) * | 2022-03-28 | 2023-04-18 | 深圳吉因加医学检验实验室 | 一种用于结构变异检测的方法、装置和存储介质 |
CN115910199B (zh) * | 2022-11-01 | 2023-07-14 | 哈尔滨工业大学 | 一种基于比对框架的三代测序数据结构变异检测方法 |
CN115831223B (zh) * | 2023-02-20 | 2023-06-13 | 吉林工商学院 | 一种挖掘近源物种间染色体结构变异的分析方法及系统 |
Citations (4)
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CN101561845A (zh) * | 2008-12-12 | 2009-10-21 | 深圳华大基因研究院 | 一种染色体同线性同源区域的检测方法和系统 |
CN101914628A (zh) * | 2010-09-02 | 2010-12-15 | 深圳华大基因科技有限公司 | 检测基因组目标区域多态性位点的方法及 系统 |
CN102409099A (zh) * | 2011-11-29 | 2012-04-11 | 浙江大学 | 一种利用测序技术分析猪乳腺组织基因表达差异的方法 |
CN102789553A (zh) * | 2012-07-23 | 2012-11-21 | 中国水产科学研究院 | 利用长转录组测序结果装配基因组的方法及装置 |
Family Cites Families (5)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US7943304B2 (en) | 2005-01-12 | 2011-05-17 | Ramesh Vallabhaneni | Method and apparatus for chromosome profiling |
US20140228223A1 (en) * | 2010-05-10 | 2014-08-14 | Andreas Gnirke | High throughput paired-end sequencing of large-insert clone libraries |
CA2822439A1 (en) * | 2010-12-23 | 2012-06-28 | Sequenom, Inc. | Fetal genetic variation detection |
WO2012097474A1 (zh) | 2011-01-20 | 2012-07-26 | 深圳华大基因科技有限公司 | 检测转基因外源片段插入位点的方法和系统 |
US11004538B2 (en) | 2013-05-15 | 2021-05-11 | Bgi Genomics Co., Ltd. | Method and device for detecting chromosomal structural abnormalities |
-
2013
- 2013-05-15 US US14/890,989 patent/US11004538B2/en active Active
- 2013-05-15 ES ES13884613T patent/ES2766860T5/es active Active
- 2013-05-15 PL PL13884613.4T patent/PL2998407T5/pl unknown
- 2013-05-15 CN CN201380004734.0A patent/CN104302781B/zh active Active
- 2013-05-15 EP EP13884613.4A patent/EP2998407B2/en active Active
- 2013-05-15 WO PCT/CN2013/075622 patent/WO2014183270A1/zh active Application Filing
- 2013-05-15 RU RU2015153453A patent/RU2654575C2/ru active
- 2013-05-15 HU HUE13884613A patent/HUE047501T2/hu unknown
Patent Citations (4)
Publication number | Priority date | Publication date | Assignee | Title |
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CN101561845A (zh) * | 2008-12-12 | 2009-10-21 | 深圳华大基因研究院 | 一种染色体同线性同源区域的检测方法和系统 |
CN101914628A (zh) * | 2010-09-02 | 2010-12-15 | 深圳华大基因科技有限公司 | 检测基因组目标区域多态性位点的方法及 系统 |
CN102409099A (zh) * | 2011-11-29 | 2012-04-11 | 浙江大学 | 一种利用测序技术分析猪乳腺组织基因表达差异的方法 |
CN102789553A (zh) * | 2012-07-23 | 2012-11-21 | 中国水产科学研究院 | 利用长转录组测序结果装配基因组的方法及装置 |
Cited By (3)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN107058465A (zh) * | 2016-10-14 | 2017-08-18 | 南方科技大学 | 一种利用单倍体测序技术检测染色体平衡易位的方法 |
CN107058465B (zh) * | 2016-10-14 | 2021-10-01 | 南方科技大学 | 一种利用单倍体测序技术检测染色体平衡易位的方法 |
CN109280702A (zh) * | 2017-07-21 | 2019-01-29 | 深圳华大基因研究院 | 确定个体染色体结构异常的方法和系统 |
Also Published As
Publication number | Publication date |
---|---|
US20160085911A1 (en) | 2016-03-24 |
PL2998407T5 (pl) | 2023-01-30 |
RU2015153453A (ru) | 2017-06-20 |
EP2998407B2 (en) | 2022-11-30 |
WO2014183270A1 (zh) | 2014-11-20 |
EP2998407A1 (en) | 2016-03-23 |
CN104302781A (zh) | 2015-01-21 |
EP2998407B1 (en) | 2019-12-04 |
PL2998407T3 (pl) | 2020-05-18 |
ES2766860T5 (es) | 2023-02-23 |
RU2654575C2 (ru) | 2018-05-21 |
US11004538B2 (en) | 2021-05-11 |
ES2766860T3 (es) | 2020-06-15 |
HUE047501T2 (hu) | 2020-04-28 |
EP2998407A4 (en) | 2017-01-11 |
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Effective date of registration: 20170103 Address after: Beishan Industrial Zone Building in Yantian District of Shenzhen city in Guangdong province 518083 1, 9, 3 and 11 floor of Building 1, 5 floor Patentee after: Shenzhen Huada clinical inspection center Co., Ltd. Address before: Yantian District of Shenzhen City, Guangdong province 518000 Hongan street No. 21 China Comprehensive Park 7 Building 7 layer -14 layer Patentee before: BGI SHENZHEN CO LTD |
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Address after: 518083 1st, 3rd, 4th and 5th floors of 11 buildings in Beishan Industrial Zone, Yantian Street, Yantian District, Shenzhen City, Guangdong Province Patentee after: Shenzhen Huada clinical laboratory center Address before: 518083 Building 1, 9 and 11 Building 1, 3 and 5 of Beishan Industrial Zone, Yantian District, Shenzhen City, Guangdong Province Patentee before: Shenzhen Huada clinical inspection center Co., Ltd. |
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Address after: 518083 1st, 3rd, 4th and 5th floors of 11 buildings in Beishan Industrial Zone, Yantian Street, Yantian District, Shenzhen City, Guangdong Province Patentee after: Shenzhen Huada Medical Laboratory Address before: 518083 1st, 3rd, 4th and 5th floors of 11 buildings in Beishan Industrial Zone, Yantian Street, Yantian District, Shenzhen City, Guangdong Province Patentee before: SHENZHEN HUADA CLINIC EXAMINATION CENTER |