HK1203220A1 - Methods for determining absolute genome-wide copy number variations of complex tumors - Google Patents

Methods for determining absolute genome-wide copy number variations of complex tumors

Info

Publication number
HK1203220A1
HK1203220A1 HK15103681.1A HK15103681A HK1203220A1 HK 1203220 A1 HK1203220 A1 HK 1203220A1 HK 15103681 A HK15103681 A HK 15103681A HK 1203220 A1 HK1203220 A1 HK 1203220A1
Authority
HK
Hong Kong
Prior art keywords
genome
methods
copy number
number variations
determining absolute
Prior art date
Application number
HK15103681.1A
Other languages
English (en)
Chinese (zh)
Inventor
亞倫．哈珀恩
克利須那．潘特
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 HK1203220A1 publication Critical patent/HK1203220A1/xx

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
    • C12Q1/6813—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
    • 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
    • C12Q1/6876—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
    • 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)
HK15103681.1A 2012-05-04 2015-04-15 Methods for determining absolute genome-wide copy number variations of complex tumors HK1203220A1 (en)

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 (1)

Publication Number Publication Date
HK1203220A1 true HK1203220A1 (en) 2015-10-23

Family

ID=49514954

Family Applications (1)

Application Number Title Priority Date Filing Date
HK15103681.1A HK1203220A1 (en) 2012-05-04 2015-04-15 Methods for determining absolute genome-wide copy number variations of complex tumors

Country Status (4)

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

Families Citing this family (36)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2013204615A1 (en) * 2012-07-20 2014-02-06 Verinata Health, Inc. Detecting and classifying copy number variation in a fetal genome
CA2892308A1 (fr) * 2012-10-09 2014-04-17 Five3 Genomics, Llc Systemes et procedes pour l'analyse de la clonalite d'une tumeur
EP2959015B1 (fr) 2013-02-20 2020-11-04 Bionano Genomics, Inc. Caractérisation de molécules en nanofluidique
US10844424B2 (en) * 2013-02-20 2020-11-24 Bionano Genomics, Inc. Reduction of bias in genomic coverage measurements
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
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
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
WO2016100049A1 (fr) 2014-12-18 2016-06-23 Edico Genome Corporation Transistor à effet de champ chimiquement sensible
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
SG11201805119QA (en) * 2015-12-17 2018-07-30 Guardant Health Inc Methods to determine tumor gene copy number by analysis of cell-free dna
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
EP3459115A4 (fr) 2016-05-16 2020-04-08 Agilome, Inc. Dispositifs à fet au graphène, systèmes et leurs méthodes d'utilisation pour le séquençage d'acides nucléiques
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
CN110024035B (zh) * 2016-09-22 2023-11-14 Illumina公司 体细胞拷贝数变化检测
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
WO2018183745A1 (fr) * 2017-03-30 2018-10-04 Illumina, Inc. Système et procédé d'analyse de données génomiques
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
WO2021114139A1 (fr) * 2019-12-11 2021-06-17 深圳华大基因股份有限公司 Procédé et dispositif de détection de variation du nombre de copies basés sur l'adn tumoral circulant dans le sang
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
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
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

Family Cites Families (30)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5547839A (en) 1989-06-07 1996-08-20 Affymax Technologies N.V. Sequencing of surface immobilized polymers utilizing microflourescence detection
US6401267B1 (en) 1993-09-27 2002-06-11 Radoje Drmanac Methods and compositions for efficient nucleic acid sequencing
US5795782A (en) 1995-03-17 1998-08-18 President & Fellows Of Harvard College Characterization of individual polymer molecules based on monomer-interface interactions
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
US6309824B1 (en) 1997-01-16 2001-10-30 Hyseq, Inc. Methods for analyzing a target nucleic acid using immobilized heterogeneous mixtures of oligonucleotide probes
WO2000040758A2 (fr) 1999-01-06 2000-07-13 Hyseq Inc. Sequencage par hybridation, ameliore, utilisant des groupes de sondes
GB9901475D0 (en) 1999-01-22 1999-03-17 Pyrosequencing Ab A method of DNA sequencing
US7258838B2 (en) 1999-06-22 2007-08-21 President And Fellows Of Harvard College Solid state molecular probe device
US6627067B1 (en) 1999-06-22 2003-09-30 President And Fellows Of Harvard College Molecular and atomic scale evaluation of biopolymers
US6818395B1 (en) 1999-06-28 2004-11-16 California Institute Of Technology Methods and apparatus for analyzing polynucleotide sequences
EP1218543A2 (fr) 1999-09-29 2002-07-03 Solexa Ltd. Sequen age de polynucleotides
US10229244B2 (en) * 2002-11-11 2019-03-12 Affymetrix, Inc. Methods for identifying DNA copy number changes using hidden markov model based estimations
CN1791682B (zh) 2003-02-26 2013-05-22 凯利达基因组股份有限公司 通过杂交进行的随机阵列dna分析
US7238485B2 (en) 2004-03-23 2007-07-03 President And Fellows Of Harvard College Methods and apparatus for characterizing polynucleotides
JP4533015B2 (ja) 2004-06-15 2010-08-25 キヤノン株式会社 化合物及びそれを用いた有機エレクトロルミネッセンス素子
WO2006073504A2 (fr) 2004-08-04 2006-07-13 President And Fellows Of Harvard College Sequençage des oscillations dans l'anticodon
CN101103357B (zh) 2004-08-13 2012-10-03 哈佛学院院长等 超高处理量光学-纳米孔dna读出平台
DK1907571T3 (en) 2005-06-15 2017-08-21 Complete Genomics Inc NUCLEIC ACID ANALYSIS USING INCIDENTAL MIXTURES OF NON-OVERLAPPING FRAGMENTS
EP1951900B1 (fr) 2005-10-07 2016-06-15 Callida Genomics, Inc. Biopuces à molécules simples autoassemblées et utilisations
WO2007120208A2 (fr) 2005-11-14 2007-10-25 President And Fellows Of Harvard College Séquençage de l'adn en cercle tournant sur nanogrille
EP1969514A2 (fr) * 2005-12-14 2008-09-17 Cold Spring Harbor Laboratory Procédés destinés à évaluer des mesures de probabilités d'un résultat clinique en utilisant le profil génomique
CA2643700A1 (fr) 2006-02-24 2007-11-22 Callida Genomics, Inc. Sequencage genomique a haut debit sur des puces a adn
US7910302B2 (en) 2006-10-27 2011-03-22 Complete Genomics, Inc. Efficient arrays of amplified polynucleotides
US20090111705A1 (en) 2006-11-09 2009-04-30 Complete Genomics, Inc. Selection of dna adaptor orientation by hybrid capture
US20080221832A1 (en) 2006-11-09 2008-09-11 Complete Genomics, Inc. Methods for computing positional base probabilities using experminentals base value distributions
US7960110B2 (en) * 2006-11-15 2011-06-14 The Regents Of The University Of California Detection of chromosomal region copy number changes to diagnose melanoma
WO2009052214A2 (fr) 2007-10-15 2009-04-23 Complete Genomics, Inc. Analyse de séquence à l'aide d'acides nucléiques décorés
US8725422B2 (en) * 2010-10-13 2014-05-13 Complete Genomics, Inc. Methods for estimating genome-wide copy number variations
IL269097B2 (en) * 2012-09-04 2024-01-01 Guardant Health Inc Systems and methods for detecting rare mutations and changes in number of copies

Also Published As

Publication number Publication date
EP2844771A4 (fr) 2015-12-02
EP2844771A1 (fr) 2015-03-11
CN104428425A (zh) 2015-03-18
WO2013166517A1 (fr) 2013-11-07

Similar Documents

Publication Publication Date Title
HK1203220A1 (en) Methods for determining absolute genome-wide copy number variations of complex tumors
IL234875B (en) A method for detecting a copy number change
HK1203517A1 (en) Multispecific antibodies
GB2479471B (en) Method for determining copy number variations
SG11201504241QA (en) Method for evaluation of presence of or risk of colon tumors
HK1206743A1 (en) 4-hydroxy-isoquinoline compounds as hif hydroxylase inhibitors hif 4--
EP2761409A4 (fr) Stylet magnétique
GB2493514B (en) Copy detection
GB201505407D0 (en) Methods for discovering therapeutic targets
IL236524B (en) Camel antibody libraries
EP2861588A4 (fr) Nouveaux agents thérapeutiques pour le cancer du cerveau
EP2668295A4 (fr) Procédés de détection du cancer du poumon
EP2859350A4 (fr) Utilisation du 5-ala pour la détection des tumeurs cérébrales
SG11201400185XA (en) Method for forming magnetic field space
EP2831285A4 (fr) Procédés de détection d'anticorps neutralisants anti-cytomégalovirus
EP2876447A4 (fr) Procédé de détection de cancer
EP2765682A4 (fr) Procédé de formation d'espace de champ magnétique
EP2905658A4 (fr) Procédé de production de toner électrophotographique
HK1213634A1 (zh) 檢測癌症的方法
HUE043162T2 (hu) Eljárás rák detektálására
HK1208731A1 (en) Method for the detection of a multispecific binder
EP2810069A4 (fr) Procédé de quantification de bibliothèques de dérivés peptidiques utilisant l'exposition sur phage
EP2699699A4 (fr) Procédé de diagnostic du cancer
EP2894477A4 (fr) Procédé de dépistage du cancer du sein
IL234512A0 (en) Three interactions of magnetic system