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EP2844771A4 - Procédés de détermination des variations du nombre de copies absolu à l'échelle du génome de tumeurs complexes - Google Patents

Procédés de détermination des variations du nombre de copies absolu à l'échelle du génome de tumeurs complexes

Info

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Withdrawn
Application number
EP13784660.6A
Other languages
German (de)
English (en)
Other versions
EP2844771A1 (fr
Inventor
Aaron Halpern
Krishna Pant
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Complete Genomics Inc
Original Assignee
Complete Genomics Inc
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Application filed by Complete Genomics Inc filed Critical Complete Genomics Inc
Publication of EP2844771A1 publication Critical patent/EP2844771A1/fr
Publication of EP2844771A4 publication Critical patent/EP2844771A4/fr
Withdrawn legal-status Critical Current

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)
  • Biotechnology (AREA)
  • Biophysics (AREA)
  • Medical Informatics (AREA)
  • Bioinformatics & Computational Biology (AREA)
  • Evolutionary Biology (AREA)
  • Spectroscopy & Molecular Physics (AREA)
  • Theoretical Computer Science (AREA)
  • Genetics & Genomics (AREA)
  • Organic Chemistry (AREA)
  • Molecular Biology (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Immunology (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • General Engineering & Computer Science (AREA)
  • Pathology (AREA)
  • Hospice & Palliative Care (AREA)
  • Oncology (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
EP13784660.6A 2012-05-04 2013-05-06 Procédés de détermination des variations du nombre de copies absolu à l'échelle du génome de tumeurs complexes Withdrawn EP2844771A4 (fr)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
US201261643225P 2012-05-04 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

Publications (2)

Publication Number Publication Date
EP2844771A1 EP2844771A1 (fr) 2015-03-11
EP2844771A4 true EP2844771A4 (fr) 2015-12-02

Family

ID=49514954

Family Applications (1)

Application Number Title Priority Date Filing Date
EP13784660.6A Withdrawn EP2844771A4 (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

Country Status (4)

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

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CN106164295B (zh) * 2014-02-25 2020-08-11 生物纳米基因公司 减小基因组覆盖测量中的偏差
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US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
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
EP3235010A4 (fr) 2014-12-18 2018-08-29 Agilome, Inc. Transistor à effet de champ chimiquement sensible
US10006910B2 (en) 2014-12-18 2018-06-26 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
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
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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
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EP3602362B1 (fr) * 2017-03-30 2024-07-31 Illumina, Inc. Système et procédé d'analyse de données génomiques
CN107679374B (zh) * 2017-08-23 2019-03-15 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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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
JP2024527329A (ja) * 2021-06-30 2024-07-24 ラボラトリー コーポレイション オブ アメリカ ホールディングス 染色体および亜染色体のコピー数多型検出
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
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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
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Also Published As

Publication number Publication date
HK1203220A1 (en) 2015-10-23
CN104428425A (zh) 2015-03-18
EP2844771A1 (fr) 2015-03-11
WO2013166517A1 (fr) 2013-11-07

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