DK2772549T3 - Fremgangsmåde til detektering af genetisk variation - Google Patents
Fremgangsmåde til detektering af genetisk variation Download PDFInfo
- Publication number
- DK2772549T3 DK2772549T3 DK11878559.1T DK11878559T DK2772549T3 DK 2772549 T3 DK2772549 T3 DK 2772549T3 DK 11878559 T DK11878559 T DK 11878559T DK 2772549 T3 DK2772549 T3 DK 2772549T3
- Authority
- DK
- Denmark
- Prior art keywords
- genetic variation
- detecting genetic
- detecting
- variation
- genetic
- 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
- 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
- C12Q1/6869—Methods for sequencing
-
- 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
-
- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06F—ELECTRIC DIGITAL DATA PROCESSING
- G06F17/00—Digital computing or data processing equipment or methods, specially adapted for specific functions
- G06F17/10—Complex mathematical operations
- G06F17/18—Complex mathematical operations for evaluating statistical data, e.g. average values, frequency distributions, probability functions, regression analysis
Applications Claiming Priority (1)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| PCT/CN2011/002244 WO2013097062A1 (zh) | 2011-12-31 | 2011-12-31 | 一种遗传变异检测方法 |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| DK2772549T3 true DK2772549T3 (da) | 2019-08-19 |
Family
ID=48696161
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| DK11878559.1T DK2772549T3 (da) | 2011-12-31 | 2011-12-31 | Fremgangsmåde til detektering af genetisk variation |
Country Status (9)
| Country | Link |
|---|---|
| US (1) | US20140370504A1 (da) |
| EP (1) | EP2772549B8 (da) |
| JP (1) | JP5993029B2 (da) |
| CN (1) | CN104204220B (da) |
| DK (1) | DK2772549T3 (da) |
| ES (1) | ES2741966T3 (da) |
| HU (1) | HUE047193T2 (da) |
| PL (1) | PL2772549T3 (da) |
| WO (1) | WO2013097062A1 (da) |
Families Citing this family (24)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| EP2826865B8 (en) * | 2012-01-20 | 2017-08-16 | BGI Genomics Co., Ltd. | Method and system for determining whether copy number variation exists in sample genome, and computer readable medium |
| WO2015006932A1 (zh) | 2013-07-17 | 2015-01-22 | 深圳华大基因科技有限公司 | 一种染色体非整倍性检测方法及装置 |
| EP4227947A1 (en) | 2013-10-21 | 2023-08-16 | Verinata Health, Inc. | Method for improving the sensitivity of detection in determining copy number variations |
| CN103993069B (zh) * | 2014-03-21 | 2020-04-28 | 深圳华大基因科技服务有限公司 | 病毒整合位点捕获测序分析方法 |
| US10318704B2 (en) | 2014-05-30 | 2019-06-11 | Verinata Health, Inc. | Detecting fetal sub-chromosomal aneuploidies |
| CN105734120B (zh) * | 2014-12-11 | 2020-11-27 | 天津华大基因科技有限公司 | 检测性发育相关基因变异的方法和试剂盒 |
| MA40939A (fr) | 2014-12-12 | 2017-10-18 | Verinata Health Inc | Utilisation de la taille de fragments d'adn acellulaire pour déterminer les variations du nombre de copies |
| CN105986008A (zh) * | 2015-01-27 | 2016-10-05 | 深圳华大基因科技有限公司 | Cnv检测方法和装置 |
| CN105354443A (zh) * | 2015-12-14 | 2016-02-24 | 孔祥军 | 无创产前基因检测分析软件 |
| US10095831B2 (en) | 2016-02-03 | 2018-10-09 | Verinata Health, Inc. | Using cell-free DNA fragment size to determine copy number variations |
| CN107480470B (zh) * | 2016-06-08 | 2020-08-11 | 广州华大基因医学检验所有限公司 | 基于贝叶斯与泊松分布检验的已知变异检出方法和装置 |
| CN106367512A (zh) * | 2016-09-22 | 2017-02-01 | 上海序康医疗科技有限公司 | 一种鉴定样本中肿瘤负荷的方法和系统 |
| US11342047B2 (en) | 2017-04-21 | 2022-05-24 | Illumina, Inc. | Using cell-free DNA fragment size to detect tumor-associated variant |
| CN110462063B (zh) * | 2017-05-23 | 2023-06-23 | 深圳华大生命科学研究院 | 一种基于测序数据的变异检测方法、装置和存储介质 |
| 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 |
| CN107312850A (zh) * | 2017-07-19 | 2017-11-03 | 华东医药（杭州）基因科技有限公司 | 一种pcr无效扩增的检测方法 |
| CN112365927B (zh) * | 2017-12-28 | 2023-08-25 | 安诺优达基因科技(北京)有限公司 | Cnv检测装置 |
| CN108410970A (zh) * | 2018-03-12 | 2018-08-17 | 博奥生物集团有限公司 | 一种单细胞基因组拷贝数变异的检测方法及试剂盒 |
| CN109086571B (zh) * | 2018-08-03 | 2019-08-23 | 国家卫生健康委科学技术研究所 | 一种单基因病遗传变异智能解读及报告的方法和系统 |
| CN109920485B (zh) * | 2018-12-29 | 2023-10-31 | 浙江安诺优达生物科技有限公司 | 对测序序列进行变异模拟的方法及其应用 |
| CN111139303B (zh) * | 2020-01-03 | 2022-07-05 | 西北农林科技大学 | 一种山羊cadm2基因cnv标记辅助检测生长性状的方法及其应用 |
| 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 |
| CN111429966A (zh) * | 2020-04-23 | 2020-07-17 | 长沙金域医学检验实验室有限公司 | 基于稳健线性回归的染色体拷贝数变异判别方法及装置 |
| CN113299342B (zh) * | 2021-06-17 | 2024-03-15 | 苏州贝康医疗器械有限公司 | 基于芯片数据的拷贝数变异检测方法及检测装置 |
Family Cites Families (6)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| CN102137938B (zh) * | 2008-07-04 | 2015-01-21 | 解码遗传学私营有限责任公司 | 预测精神分裂症的风险的拷贝数变异 |
| CN101555528B (zh) * | 2008-09-28 | 2015-05-27 | 南京市妇幼保健院 | 一种染色体22q11.2区微缺失、微重复的测定方法 |
| WO2010042716A1 (en) * | 2008-10-08 | 2010-04-15 | The Children's Hospital Of Philadelphia | Genetic alterations associated with type i diabetes and methods of use thereof for diagnosis and treatment |
| US8954337B2 (en) * | 2008-11-10 | 2015-02-10 | Signature Genomic | Interactive genome browser |
| WO2010057132A1 (en) * | 2008-11-14 | 2010-05-20 | The Children's Hospital Of Philadelphia | Genetic alterations associated with schizophrenia and methods of use thereof for the diagnosis and treatment of the same |
| CN102325901A (zh) * | 2008-12-22 | 2012-01-18 | 赛卢拉有限公司 | 检测等位基因、基因组和转录物组的方法和基因型分析谱 |
-
2011
- 2011-12-31 US US14/369,615 patent/US20140370504A1/en not_active Abandoned
- 2011-12-31 WO PCT/CN2011/002244 patent/WO2013097062A1/zh active Application Filing
- 2011-12-31 JP JP2014546264A patent/JP5993029B2/ja active Active
- 2011-12-31 HU HUE11878559A patent/HUE047193T2/hu unknown
- 2011-12-31 CN CN201180076137.XA patent/CN104204220B/zh active Active
- 2011-12-31 EP EP11878559.1A patent/EP2772549B8/en active Active
- 2011-12-31 PL PL11878559T patent/PL2772549T3/pl unknown
- 2011-12-31 DK DK11878559.1T patent/DK2772549T3/da active
- 2011-12-31 ES ES11878559T patent/ES2741966T3/es active Active
Also Published As
| Publication number | Publication date |
|---|---|
| PL2772549T3 (pl) | 2019-12-31 |
| CN104204220B (zh) | 2017-06-06 |
| WO2013097062A1 (zh) | 2013-07-04 |
| US20140370504A1 (en) | 2014-12-18 |
| JP2015502749A (ja) | 2015-01-29 |
| EP2772549A4 (en) | 2015-03-18 |
| EP2772549B8 (en) | 2019-09-11 |
| EP2772549B1 (en) | 2019-07-31 |
| ES2741966T3 (es) | 2020-02-12 |
| CN104204220A (zh) | 2014-12-10 |
| JP5993029B2 (ja) | 2016-09-14 |
| EP2772549A1 (en) | 2014-09-03 |
| HUE047193T2 (hu) | 2020-04-28 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| DK2772549T3 (da) | Fremgangsmåde til detektering af genetisk variation | |
| DK2872147T3 (da) | Fremgangsmåde til fremstilling af kirale oligonukleotider | |
| DK2788767T3 (da) | Fremgangsmåde til detektering af nukleosomaddukter | |
| DK3351631T3 (da) | Fremgangsmåder til mærkning af dna-kodede biblioteker | |
| CO6960542A2 (es) | Polimorfos de inhibidores de cinasas | |
| DK3415619T3 (da) | Identifikation af polynukleotider forbundet med en prøve | |
| DK2709613T4 (da) | Fremgangsmåder til behandling af hcv | |
| BR112014005087A2 (pt) | método para detectar nucleossomas contendo nucleotídeos | |
| DK2639050T3 (da) | Fremgangsmåde til fremstilling af en artikel ved formning | |
| BR112014007958A2 (pt) | método | |
| DK2676118T3 (da) | Fremgangsmåde til fiksering af vævsprøve | |
| BR112014001237A2 (pt) | método | |
| DK3412687T3 (da) | Fremgangsmåder til behandling af dlbcl | |
| BR112014001851A2 (pt) | método | |
| DK2732131T3 (da) | Positioneringsfremgangsmåde | |
| DK2701826T3 (da) | Fremgangsmåde til volumetrisk reduktion af organiske væsker | |
| DK2531526T3 (da) | Fremgangsmåde til opnåelse af antistoffer | |
| DK2569438T3 (da) | Fremgangsmåde til fremstilling af biogas | |
| BR112014009795A2 (pt) | método | |
| DK2876447T3 (da) | Fremgangsmåde til detektering af cancer | |
| DK2471983T3 (da) | Fremgangsmåde til fremstilling af meta-aramidfibre | |
| DK2580339T3 (da) | Fremgangsmåde til fremstilling af biobrændstoffer | |
| DK2788353T3 (da) | Bur-aminligander til metallo-radiofarmaceutika | |
| DK3067219T3 (da) | Fremgangsmåde til fremstilling af paneler | |
| DK3415158T3 (da) | Repeat-variable direster til targeting af nukleotider |