CN104428425A - 测定复杂肿瘤全基因组绝对拷贝数变异的方法 - Google Patents

测定复杂肿瘤全基因组绝对拷贝数变异的方法 Download PDF

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CN104428425A
CN104428425A CN201380034335.9A CN201380034335A CN104428425A CN 104428425 A CN104428425 A CN 104428425A CN 201380034335 A CN201380034335 A CN 201380034335A CN 104428425 A CN104428425 A CN 104428425A
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亚伦·哈珀恩
克利须那·潘特
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Callida Genomics Inc
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    • C12Q1/6813—Hybridisation assays
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    • 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
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
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    • G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
    • G16B20/10—Ploidy or copy number detection
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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
    • 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
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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
    • G16B30/10—Sequence alignment; Homology search
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    • 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
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    • 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

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CN201380034335.9A 2012-05-04 2013-05-06 测定复杂肿瘤全基因组绝对拷贝数变异的方法 Pending CN104428425A (zh)

Applications Claiming Priority (3)

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US201261643225P 2012-05-04 2012-05-04
US61/643,225 2012-05-04
PCT/US2013/039777 WO2013166517A1 (fr) 2012-05-04 2013-05-06 Procédés de détermination des variations du nombre de copies absolu à l'échelle du génome de tumeurs complexes

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EP (1) EP2844771A4 (fr)
CN (1) CN104428425A (fr)
HK (1) HK1203220A1 (fr)
WO (1) WO2013166517A1 (fr)

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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
CN106649206A (zh) * 2016-12-17 2017-05-10 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
CN107408163A (zh) * 2015-06-24 2017-11-28 社会福祉法人三星生命公益财团 用于分析基因的方法及装置
CN107810502A (zh) * 2015-05-18 2018-03-16 瑞泽恩制药公司 用于拷贝数变异检测的方法和系统
CN108268752A (zh) * 2018-01-18 2018-07-10 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
CN108604260A (zh) * 2016-01-11 2018-09-28 艾迪科基因组公司 用于现场或基于云的dna和rna处理和分析的基因组学基础架构
CN108985009A (zh) * 2018-08-29 2018-12-11 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
CN109637586A (zh) * 2018-12-27 2019-04-16 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
WO2019128233A1 (fr) * 2017-12-29 2019-07-04 南京格致基因生物科技有限公司 Procédé et système de détermination de cancer cervical
CN110010197A (zh) * 2019-03-29 2019-07-12 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
TWI670495B (zh) * 2016-09-22 2019-09-01 大陸商上海億康醫學檢驗所有限公司 一種鑑定樣本中腫瘤負荷的方法和系統
CN110570907A (zh) * 2019-09-04 2019-12-13 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
CN110603596A (zh) * 2017-03-30 2019-12-20 Illumina公司 基因组数据分析系统和方法
CN113889187A (zh) * 2021-09-24 2022-01-04 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
CN113990389A (zh) * 2021-12-27 2022-01-28 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
CN114990202A (zh) * 2022-07-29 2022-09-02 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
CN115019892A (zh) * 2022-06-13 2022-09-06 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
CN116386718A (zh) * 2023-05-30 2023-07-04 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质

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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
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Cited By (30)

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CN107810502B (zh) * 2015-05-18 2022-02-11 瑞泽恩制药公司 用于拷贝数变异检测的方法和系统
CN107810502A (zh) * 2015-05-18 2018-03-16 瑞泽恩制药公司 用于拷贝数变异检测的方法和系统
CN107408163B (zh) * 2015-06-24 2021-03-05 吉尼努斯公司 用于分析基因的方法及装置
CN107408163A (zh) * 2015-06-24 2017-11-28 社会福祉法人三星生命公益财团 用于分析基因的方法及装置
CN108604260A (zh) * 2016-01-11 2018-09-28 艾迪科基因组公司 用于现场或基于云的dna和rna处理和分析的基因组学基础架构
CN108604260B (zh) * 2016-01-11 2022-06-10 艾迪科基因组公司 用于现场或基于云的dna和rna处理和分析的基因组学基础架构
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
TWI670495B (zh) * 2016-09-22 2019-09-01 大陸商上海億康醫學檢驗所有限公司 一種鑑定樣本中腫瘤負荷的方法和系統
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
CN106649206A (zh) * 2016-12-17 2017-05-10 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
CN110603596B (zh) * 2017-03-30 2023-09-29 Illumina公司 基因组数据分析系统和方法
CN110603596A (zh) * 2017-03-30 2019-12-20 Illumina公司 基因组数据分析系统和方法
WO2019128233A1 (fr) * 2017-12-29 2019-07-04 南京格致基因生物科技有限公司 Procédé et système de détermination de cancer cervical
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
CN108268752A (zh) * 2018-01-18 2018-07-10 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
CN108985009A (zh) * 2018-08-29 2018-12-11 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
CN109637586A (zh) * 2018-12-27 2019-04-16 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
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
CN110010197A (zh) * 2019-03-29 2019-07-12 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
CN110570907A (zh) * 2019-09-04 2019-12-13 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
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
CN113889187A (zh) * 2021-09-24 2022-01-04 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
CN113990389A (zh) * 2021-12-27 2022-01-28 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
CN115019892A (zh) * 2022-06-13 2022-09-06 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
CN114990202A (zh) * 2022-07-29 2022-09-02 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
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
CN116386718A (zh) * 2023-05-30 2023-07-04 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质
CN116386718B (zh) * 2023-05-30 2023-08-01 北京华宇亿康生物工程技术有限公司 检测拷贝数变异的方法、设备和介质

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