EP2844771A4 - Verfahren zur bestimmung der absoluten genomweiten kopienzahlveränderungen komplexer tumoren - Google Patents
Verfahren zur bestimmung der absoluten genomweiten kopienzahlveränderungen komplexer tumorenInfo
- Publication number
- EP2844771A4 EP2844771A4 EP13784660.6A EP13784660A EP2844771A4 EP 2844771 A4 EP2844771 A4 EP 2844771A4 EP 13784660 A EP13784660 A EP 13784660A EP 2844771 A4 EP2844771 A4 EP 2844771A4
- Authority
- EP
- European Patent Office
- Prior art keywords
- genome
- methods
- copy number
- number variations
- determining absolute
- Prior art date
- Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
- Withdrawn
Links
Classifications
-
- 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
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
- C12Q1/6886—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material for cancer
-
- 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
- C12Q1/6813—Hybridisation assays
- C12Q1/6827—Hybridisation assays for detection of mutation or polymorphism
-
- 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
-
- 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
-
- 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
- G16B30/20—Sequence assembly
-
- 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Health & Medical Sciences (AREA)
- Physics & Mathematics (AREA)
- Chemical & Material Sciences (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Analytical Chemistry (AREA)
- General Health & Medical Sciences (AREA)
- Biophysics (AREA)
- Biotechnology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Theoretical Computer Science (AREA)
- Evolutionary Biology (AREA)
- Genetics & Genomics (AREA)
- Organic Chemistry (AREA)
- Molecular Biology (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Immunology (AREA)
- Pathology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- General Engineering & Computer Science (AREA)
- Oncology (AREA)
- Hospice & Palliative Care (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201261643225P | 2012-05-04 | 2012-05-04 | |
PCT/US2013/039777 WO2013166517A1 (en) | 2012-05-04 | 2013-05-06 | Methods for determining absolute genome-wide copy number variations of complex tumors |
Publications (2)
Publication Number | Publication Date |
---|---|
EP2844771A1 EP2844771A1 (de) | 2015-03-11 |
EP2844771A4 true EP2844771A4 (de) | 2015-12-02 |
Family
ID=49514954
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
EP13784660.6A Withdrawn EP2844771A4 (de) | 2012-05-04 | 2013-05-06 | Verfahren zur bestimmung der absoluten genomweiten kopienzahlveränderungen komplexer tumoren |
Country Status (4)
Country | Link |
---|---|
EP (1) | EP2844771A4 (de) |
CN (1) | CN104428425A (de) |
HK (1) | HK1203220A1 (de) |
WO (1) | WO2013166517A1 (de) |
Families Citing this family (36)
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WO2014014497A1 (en) * | 2012-07-20 | 2014-01-23 | Verinata Health, Inc. | Detecting and classifying copy number variation in a cancer genome |
KR20150093658A (ko) * | 2012-10-09 | 2015-08-18 | 파이브3 제노믹스, 엘엘씨 | 종양 클론형성능 분석을 위한 시스템 및 방법 |
US10844424B2 (en) * | 2013-02-20 | 2020-11-24 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
CN105229168B (zh) | 2013-02-20 | 2020-07-17 | 生物纳米基因有限公司 | 纳米流体中分子的表征 |
WO2015130696A1 (en) | 2014-02-25 | 2015-09-03 | Bionano Genomics, Inc. | Reduction of bias in genomic coverage measurements |
WO2016100049A1 (en) | 2014-12-18 | 2016-06-23 | Edico Genome Corporation | Chemically-sensitive field effect transistor |
US9618474B2 (en) | 2014-12-18 | 2017-04-11 | Edico Genome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
US9859394B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
US10006910B2 (en) | 2014-12-18 | 2018-06-26 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same |
US9857328B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same |
US10395759B2 (en) * | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
KR101828052B1 (ko) * | 2015-06-24 | 2018-02-09 | 사회복지법인 삼성생명공익재단 | 유전자의 복제수 변이(cnv)를 분석하는 방법 및 장치 |
CN117174167A (zh) * | 2015-12-17 | 2023-12-05 | 夸登特健康公司 | 通过分析无细胞dna确定肿瘤基因拷贝数的方法 |
IL302704A (en) * | 2016-01-11 | 2023-07-01 | Edico Genome Corp | An infragenomic structure for on-site or cloud-based DNA and RNA processing and analysis |
CN105653898A (zh) * | 2016-01-12 | 2016-06-08 | 江苏格致生命科技有限公司 | 一种基于大规模数据挖掘的癌症检测试剂盒及检测方法 |
US10811539B2 (en) | 2016-05-16 | 2020-10-20 | Nanomedical Diagnostics, Inc. | Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids |
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 |
CA3213915A1 (en) * | 2016-09-22 | 2018-03-29 | Illumina, Inc. | Somatic copy number variation detection |
CN106566877A (zh) * | 2016-10-31 | 2017-04-19 | 天津诺禾致源生物信息科技有限公司 | 检测基因突变的方法和装置 |
CN106649206B (zh) * | 2016-12-17 | 2019-03-22 | 济南鼎道企业管理咨询有限公司 | 籽粒类基因工程农作物混入风险监测抽样制样方法 |
US20200013485A1 (en) * | 2017-03-30 | 2020-01-09 | Illumina, Inc. | Genomic data analysis system and method |
CN109858211B (zh) * | 2017-08-23 | 2021-02-19 | 北京三快在线科技有限公司 | 一种基于滑动轨迹的人机识别方法及装置,电子设备 |
CN109988833A (zh) * | 2017-12-29 | 2019-07-09 | 南京格致基因生物科技有限公司 | 宫颈癌的判断方法及系统 |
CN108268752B (zh) * | 2018-01-18 | 2019-02-01 | 东莞博奥木华基因科技有限公司 | 一种染色体异常检测装置 |
CN108985009B (zh) * | 2018-08-29 | 2022-06-07 | 北京希望组生物科技有限公司 | 一种获得基因单体型序列的方法及其应用 |
CN109637586B (zh) * | 2018-12-27 | 2020-11-17 | 北京优迅医学检验实验室有限公司 | 测序深度的矫正方法及装置 |
CN110010197B (zh) * | 2019-03-29 | 2021-07-20 | 深圳裕策生物科技有限公司 | 基于血液循环肿瘤dna的单核苷酸变异检测方法、装置和存储介质 |
CN110570907B (zh) * | 2019-09-04 | 2021-07-30 | 北京橡鑫生物科技有限公司 | 建立检测微卫星不稳定的基线及模型的方法与应用 |
CN114502744B (zh) * | 2019-12-11 | 2023-06-23 | 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 |
CN113889187B (zh) * | 2021-09-24 | 2022-12-06 | 上海仁东医学检验所有限公司 | 单样本等位基因拷贝数变异检测方法、探针组和试剂盒 |
CN113990389B (zh) * | 2021-12-27 | 2022-04-22 | 北京优迅医疗器械有限公司 | 推断肿瘤纯度和倍性的方法和装置 |
CN115019892B (zh) * | 2022-06-13 | 2023-04-07 | 郑州大学第一附属医院 | 环境微生物群宏基因组测序中序列覆盖度的置信测定方法 |
CN114990202B (zh) * | 2022-07-29 | 2022-09-30 | 普瑞基准科技(北京)有限公司 | Snp位点在评估基因组异常的应用及评估基因组异常的方法 |
CN117334249A (zh) * | 2023-05-30 | 2024-01-02 | 上海品峰医疗科技有限公司 | 基于扩增子测序数据检测拷贝数变异的方法、设备和介质 |
CN117520928B (zh) * | 2024-01-05 | 2024-03-19 | 南京邮电大学 | 一种基于信道状态信息目标速度估计的人体跌倒检测方法 |
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US20120095697A1 (en) * | 2010-10-13 | 2012-04-19 | Aaron Halpern | Methods for estimating genome-wide copy number variations |
WO2014039556A1 (en) * | 2012-09-04 | 2014-03-13 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
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-
2013
- 2013-05-06 WO PCT/US2013/039777 patent/WO2013166517A1/en active Application Filing
- 2013-05-06 EP EP13784660.6A patent/EP2844771A4/de not_active Withdrawn
- 2013-05-06 CN CN201380034335.9A patent/CN104428425A/zh active Pending
-
2015
- 2015-04-15 HK HK15103681.1A patent/HK1203220A1/xx unknown
Patent Citations (2)
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US20120095697A1 (en) * | 2010-10-13 | 2012-04-19 | Aaron Halpern | Methods for estimating genome-wide copy number variations |
WO2014039556A1 (en) * | 2012-09-04 | 2014-03-13 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
Non-Patent Citations (4)
Title |
---|
ATTIYEH E F ET AL: "Genomic copy number determination in cancer cells from single nucleotide polymorphism microarrays based on quantitative genotyping corrected for aneuploidy", GENOME RESEARCH, COLD SPRING HARBOR LABORATORY PRESS, vol. 19, no. 2, 13 January 2009 (2009-01-13), pages 276 - 283, XP002614410, ISSN: 1088-9051, [retrieved on 20090113], DOI: 10.1101/GR.075671.107 * |
BEROUKHIM R ET AL: "Inferring Loss-of-Heterozygosity from Unpaired Tumors Using High-Density Oligonucleotide SNP Arrays", BIOINFORMATICS, vol. 19, no. 5, 12 May 2006 (2006-05-12), pages 2397, XP055085786, ISSN: 1367-4803, DOI: 1367-4803(2003)019[2397:AFLGM]2.0.CO;2 * |
See also references of WO2013166517A1 * |
STAAF J ET AL: "Segmentation-based detection of allelic imbalance and loss-of-heterozygosity in cancer cells using whole genome SNP arrays", GENOME BIOLOGY, BIOMED CENTRAL LTD., LONDON, GB, vol. 9, no. 9, 16 September 2008 (2008-09-16), pages R136, XP021046979, ISSN: 1465-6906, DOI: 10.1186/GB-2008-9-9-R136 * |
Also Published As
Publication number | Publication date |
---|---|
WO2013166517A1 (en) | 2013-11-07 |
HK1203220A1 (en) | 2015-10-23 |
EP2844771A1 (de) | 2015-03-11 |
CN104428425A (zh) | 2015-03-18 |
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18D | Application deemed to be withdrawn |
Effective date: 20180915 |