AU2013292610B2 - System and methods for detecting genetic variation - Google Patents

System and methods for detecting genetic variation Download PDF

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Publication number
AU2013292610B2
AU2013292610B2 AU2013292610A AU2013292610A AU2013292610B2 AU 2013292610 B2 AU2013292610 B2 AU 2013292610B2 AU 2013292610 A AU2013292610 A AU 2013292610A AU 2013292610 A AU2013292610 A AU 2013292610A AU 2013292610 B2 AU2013292610 B2 AU 2013292610B2
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cftr
rsl
sequence
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deficiency
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AU2013292610A1 (en
Inventor
Clement Chu
Eric Evans
A. Scott Patterson
Hunter RICHARDS
Abhik SHAH
Balaji Srinivasan
Subramaniam SRINIVASAN
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Myriad Womens Health Inc
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Myriad Womens Health Inc
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Priority claimed from US13/551,590 external-priority patent/US20140024542A1/en
Priority claimed from US13/551,587 external-priority patent/US20140024541A1/en
Priority claimed from US13/551,584 external-priority patent/US20140024536A1/en
Priority claimed from US13/665,671 external-priority patent/US9092401B2/en
Application filed by Myriad Womens Health Inc filed Critical Myriad Womens Health Inc
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Assigned to MYRIAD WOMEN'S HEALTH, INC. reassignment MYRIAD WOMEN'S HEALTH, INC. Request to Amend Deed and Register Assignors: COUNSYL, INC.
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    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6813Hybridisation assays
    • C12Q1/6827Hybridisation assays for detection of mutation or polymorphism
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6869Methods for sequencing
    • C12Q1/6874Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation

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  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Organic Chemistry (AREA)
  • Zoology (AREA)
  • Wood Science & Technology (AREA)
  • Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Microbiology (AREA)
  • Biochemistry (AREA)
  • Biotechnology (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Analytical Chemistry (AREA)
  • Physics & Mathematics (AREA)
  • Immunology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • General Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Apparatus Associated With Microorganisms And Enzymes (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
AU2013292610A 2012-07-17 2013-07-17 System and methods for detecting genetic variation Ceased AU2013292610B2 (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
AU2018217306A AU2018217306A1 (en) 2012-07-17 2018-08-17 System and methods for detecting genetic variation

Applications Claiming Priority (9)

Application Number Priority Date Filing Date Title
US13/551,590 US20140024542A1 (en) 2012-07-17 2012-07-17 Methods and compositions for enrichment of target polynucleotides
US13/551,587 US20140024541A1 (en) 2012-07-17 2012-07-17 Methods and compositions for high-throughput sequencing
US13/551,587 2012-07-17
US13/551,584 2012-07-17
US13/551,590 2012-07-17
US13/551,584 US20140024536A1 (en) 2012-07-17 2012-07-17 Apparatus and methods for high-throughput sequencing
US13/665,671 US9092401B2 (en) 2012-10-31 2012-10-31 System and methods for detecting genetic variation
US13/665,671 2012-10-31
PCT/US2013/050965 WO2014015084A2 (en) 2012-07-17 2013-07-17 System and methods for detecting genetic variation

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AU2013292610A1 AU2013292610A1 (en) 2015-01-22
AU2013292610B2 true AU2013292610B2 (en) 2018-05-17

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AU2018217306A Abandoned AU2018217306A1 (en) 2012-07-17 2018-08-17 System and methods for detecting genetic variation

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EP (2) EP3243937A1 (enExample)
JP (3) JP6285929B2 (enExample)
CN (2) CN104812947B (enExample)
AU (2) AU2013292610B2 (enExample)
CA (1) CA2876505A1 (enExample)
ES (1) ES2637538T3 (enExample)
HK (1) HK1246372A1 (enExample)
IL (1) IL236269A0 (enExample)
WO (1) WO2014015084A2 (enExample)

Families Citing this family (89)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US8835358B2 (en) 2009-12-15 2014-09-16 Cellular Research, Inc. Digital counting of individual molecules by stochastic attachment of diverse labels
HK1206069A1 (en) 2012-02-27 2015-12-31 Cellular Research, Inc. Compositions and kits for molecular counting
AU2014312208B2 (en) 2013-08-28 2019-07-25 Becton, Dickinson And Company Massively parallel single cell analysis
JP2017504307A (ja) 2013-10-07 2017-02-09 セルラー リサーチ, インコーポレイテッド アレイ上のフィーチャーをデジタルカウントするための方法およびシステム
US11286519B2 (en) 2013-12-11 2022-03-29 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
US11859246B2 (en) 2013-12-11 2024-01-02 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
KR102379877B1 (ko) 2013-12-11 2022-03-30 아큐라젠 홀딩스 리미티드 희귀 서열 변이를 검출하기 위한 조성물 및 방법
WO2017062863A1 (en) 2015-10-09 2017-04-13 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
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
US10006910B2 (en) 2014-12-18 2018-06-26 Agilome, Inc. Chemically-sensitive field effect transistors, systems, and methods for manufacturing and using the same
US9859394B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
WO2016100049A1 (en) 2014-12-18 2016-06-23 Edico Genome Corporation Chemically-sensitive field effect transistor
WO2016134078A1 (en) 2015-02-19 2016-08-25 Becton, Dickinson And Company High-throughput single-cell analysis combining proteomic and genomic information
WO2016138500A1 (en) * 2015-02-27 2016-09-01 Cellular Research, Inc. Methods and compositions for barcoding nucleic acids for sequencing
CN107208158B (zh) 2015-02-27 2022-01-28 贝克顿迪金森公司 空间上可寻址的分子条形编码
EP3277843A2 (en) 2015-03-30 2018-02-07 Cellular Research, Inc. Methods and compositions for combinatorial barcoding
WO2016172373A1 (en) 2015-04-23 2016-10-27 Cellular Research, Inc. Methods and compositions for whole transcriptome amplification
CN107532332B9 (zh) 2015-04-24 2022-07-08 犹他大学研究基金会 用于多重分类学分类的方法和系统
US11124823B2 (en) 2015-06-01 2021-09-21 Becton, Dickinson And Company Methods for RNA quantification
ES2745694T3 (es) 2015-09-11 2020-03-03 Cellular Res Inc Métodos y composiciones para normalización de biblioteca de ácido nucleico
CN105177160B (zh) * 2015-10-16 2018-10-16 浙江大学 检测多种新生儿遗传代谢病致病基因的引物及试剂盒
US12163184B2 (en) 2015-12-03 2024-12-10 Accuragen Holdings Limited Methods and compositions for forming ligation products
WO2017165463A1 (en) 2016-03-22 2017-09-28 Counsyl, Inc. Combinatorial dna screening
CN109155149A (zh) * 2016-03-29 2019-01-04 瑞泽恩制药公司 遗传变体-表型分析系统和使用方法
EP4269616A3 (en) 2016-05-02 2024-02-14 Becton, Dickinson and Company Accurate molecular barcoding
WO2017201102A1 (en) 2016-05-16 2017-11-23 Accuragen Holdings Limited Method of improved sequencing by strand identification
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
US10301677B2 (en) 2016-05-25 2019-05-28 Cellular Research, Inc. Normalization of nucleic acid libraries
JP7046007B2 (ja) 2016-05-26 2022-04-01 ベクトン・ディキンソン・アンド・カンパニー 分子標識カウントの調節方法
US10202641B2 (en) 2016-05-31 2019-02-12 Cellular Research, Inc. Error correction in amplification of samples
US10640763B2 (en) 2016-05-31 2020-05-05 Cellular Research, Inc. Molecular indexing of internal sequences
US11361845B2 (en) * 2016-06-15 2022-06-14 President And Fellows Of Harvard College Methods for rule-based genome design
SG11201901296TA (en) 2016-08-15 2019-03-28 Accuragen Holdings Ltd Compositions and methods for detecting rare sequence variants
SG11201901733PA (en) 2016-09-26 2019-04-29 Cellular Res Inc Measurement of protein expression using reagents with barcoded oligonucleotide sequences
CN110312825A (zh) * 2016-10-24 2019-10-08 吉内恩福赛克公司 隐藏核酸内存在的信息
US11608497B2 (en) 2016-11-08 2023-03-21 Becton, Dickinson And Company Methods for cell label classification
ES2980967T3 (es) 2016-11-08 2024-10-03 Becton Dickinson Co Métodos para la clasificación de perfiles de expresión
CN106611106B (zh) * 2016-12-06 2019-05-03 北京荣之联科技股份有限公司 基因变异检测方法及装置
WO2018132610A1 (en) 2017-01-13 2018-07-19 Cellular Research, Inc. Hydrophilic coating of fluidic channels
US11319583B2 (en) 2017-02-01 2022-05-03 Becton, Dickinson And Company Selective amplification using blocking oligonucleotides
CA3059559A1 (en) 2017-06-05 2018-12-13 Becton, Dickinson And Company Sample indexing for single cells
CN108004301B (zh) * 2017-12-15 2022-02-22 格诺思博生物科技南通有限公司 基因目标区域富集方法及建库试剂盒
US11946095B2 (en) 2017-12-19 2024-04-02 Becton, Dickinson And Company Particles associated with oligonucleotides
CN108251502B (zh) * 2017-12-27 2021-12-24 深圳华大基因股份有限公司 一种外周血游离肿瘤dna的富集方法、试剂盒及其应用
CN108197433A (zh) * 2017-12-29 2018-06-22 厦门极元科技有限公司 快速dna测序数据分析平台的数据内存和硬盘分流存储方法
US11203782B2 (en) 2018-03-29 2021-12-21 Accuragen Holdings Limited Compositions and methods comprising asymmetric barcoding
CN113383083B (zh) 2018-04-27 2024-12-10 赛纳生物科技(北京)有限公司 用于制备多核苷酸的方法和组合物
CN118910215A (zh) 2018-05-03 2024-11-08 贝克顿迪金森公司 在相对的转录物末端进行分子条形码化
JP7407128B2 (ja) 2018-05-03 2023-12-28 ベクトン・ディキンソン・アンド・カンパニー ハイスループットマルチオミクスサンプル解析
CN112601823A (zh) 2018-06-12 2021-04-02 安可济控股有限公司 用于形成连接产物的方法和组合物
WO2020006431A1 (en) * 2018-06-29 2020-01-02 Rady Children's Hospital Research Center Method and system for sample identity assurance
GB201810901D0 (en) * 2018-07-03 2018-08-15 Ucb Biopharma Sprl Method
CN109182483A (zh) * 2018-09-04 2019-01-11 天津诺禾致源生物信息科技有限公司 基因变异解读的方法及装置
EP3861134B1 (en) 2018-10-01 2024-09-04 Becton, Dickinson and Company Determining 5' transcript sequences
CN113166806B (zh) * 2018-10-17 2025-01-03 奎斯特诊断投资有限责任公司 基因组测序选择系统
CN112969789A (zh) 2018-11-08 2021-06-15 贝克顿迪金森公司 使用随机引发的单细胞全转录组分析
CN109686439B (zh) * 2018-12-04 2020-08-28 东莞博奥木华基因科技有限公司 遗传病基因检测的数据分析方法、系统及存储介质
CN113195717A (zh) 2018-12-13 2021-07-30 贝克顿迪金森公司 单细胞全转录组分析中的选择性延伸
US11371076B2 (en) 2019-01-16 2022-06-28 Becton, Dickinson And Company Polymerase chain reaction normalization through primer titration
CN113574178B (zh) 2019-01-23 2024-10-29 贝克顿迪金森公司 与抗体关联的寡核苷酸
EP3924506A1 (en) 2019-02-14 2021-12-22 Becton Dickinson and Company Hybrid targeted and whole transcriptome amplification
US11965208B2 (en) 2019-04-19 2024-04-23 Becton, Dickinson And Company Methods of associating phenotypical data and single cell sequencing data
CN110349624B (zh) * 2019-05-30 2021-09-21 山东省农业科学院玉米研究所 sam文件flag标签定位T-DNA插入位点的方法
JP6953586B2 (ja) * 2019-06-19 2021-10-27 シスメックス株式会社 患者検体の核酸配列の解析方法、解析結果の提示方法、提示装置、提示プログラム、及び患者検体の核酸配列の解析システム
WO2021016239A1 (en) 2019-07-22 2021-01-28 Becton, Dickinson And Company Single cell chromatin immunoprecipitation sequencing assay
BE1027463B1 (fr) 2019-07-26 2021-02-23 Safran Aero Boosters Sa Outil de marquage par micro percussion, machine outil comprenant un outil de marquage et méthode de marquage par micro percussion
ES2987640T3 (es) 2019-11-08 2024-11-15 Becton Dickinson Co Uso de cebado aleatorio para obtener información de V(D)J de longitud completa para la secuenciación del repertorio inmunitario
CN115244184A (zh) 2020-01-13 2022-10-25 贝克顿迪金森公司 用于定量蛋白和rna的方法和组合物
EP4097228B1 (en) 2020-01-29 2024-08-14 Becton, Dickinson and Company Barcoded wells for spatial mapping of single cells through sequencing
CN115151810A (zh) 2020-02-25 2022-10-04 贝克顿迪金森公司 实现使用单细胞样品作为单色补偿对照的双特异性探针
US11967430B2 (en) 2020-04-30 2024-04-23 Optum Services (Ireland) Limited Cross-variant polygenic predictive data analysis
US11610645B2 (en) * 2020-04-30 2023-03-21 Optum Services (Ireland) Limited Cross-variant polygenic predictive data analysis
US11482302B2 (en) 2020-04-30 2022-10-25 Optum Services (Ireland) Limited Cross-variant polygenic predictive data analysis
US11574738B2 (en) 2020-04-30 2023-02-07 Optum Services (Ireland) Limited Cross-variant polygenic predictive data analysis
US11978532B2 (en) 2020-04-30 2024-05-07 Optum Services (Ireland) Limited Cross-variant polygenic predictive data analysis
EP4150118A1 (en) 2020-05-14 2023-03-22 Becton Dickinson and Company Primers for immune repertoire profiling
CN115803445A (zh) 2020-06-02 2023-03-14 贝克顿迪金森公司 用于5撇基因表达测定的寡核苷酸和珠
US11932901B2 (en) 2020-07-13 2024-03-19 Becton, Dickinson And Company Target enrichment using nucleic acid probes for scRNAseq
CN116194589A (zh) 2020-07-31 2023-05-30 贝克顿迪金森公司 用于转座酶可及染色质的单细胞测定
EP4204582B1 (en) * 2020-10-01 2025-02-26 Google LLC Linked dual barcode insertion constructs
CN112397144B (zh) * 2020-10-29 2021-06-15 无锡臻和生物科技股份有限公司 检测基因突变及表达量的方法及装置
WO2022109343A1 (en) 2020-11-20 2022-05-27 Becton, Dickinson And Company Profiling of highly expressed and lowly expressed proteins
WO2022132206A1 (en) 2020-12-15 2022-06-23 Becton, Dickinson And Company Single cell secretome analysis
EP4655423A1 (en) 2023-01-23 2025-12-03 Illumina, Inc. Inferring microorganism of origin for antimicrobial resistance markers in targeted metagenomics
WO2025014806A1 (en) * 2023-07-07 2025-01-16 Myriad Genetics, Inc. Multiple-ancestry polygenic risk assessment for breast cancer
WO2025038944A1 (en) * 2023-08-16 2025-02-20 The Johns Hopkins University Methods of making targeting oligonucleotides and uses thereof
KR20250074707A (ko) * 2023-11-15 2025-05-28 광주과학기술원 핵산 패턴 기반 정제를 통한 유전체 변이 검출 방법, 및 이를 이용한 질병 진단 방법

Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6558907B2 (en) * 2001-05-16 2003-05-06 Corning Incorporated Methods and compositions for arraying nucleic acids onto a solid support
US20120157322A1 (en) * 2010-09-24 2012-06-21 Samuel Myllykangas Direct Capture, Amplification and Sequencing of Target DNA Using Immobilized Primers

Family Cites Families (44)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5171534A (en) 1984-01-16 1992-12-15 California Institute Of Technology Automated DNA sequencing technique
US5234809A (en) 1989-03-23 1993-08-10 Akzo N.V. Process for isolating nucleic acid
DE69433010T2 (de) 1993-04-12 2004-06-09 Northwestern University, Evanston Verfahren zur darstellung von oligonukleotiden
US5705628A (en) 1994-09-20 1998-01-06 Whitehead Institute For Biomedical Research DNA purification and isolation using magnetic particles
US5750341A (en) 1995-04-17 1998-05-12 Lynx Therapeutics, Inc. DNA sequencing by parallel oligonucleotide extensions
US5780613A (en) 1995-08-01 1998-07-14 Northwestern University Covalent lock for self-assembled oligonucleotide constructs
GB9620209D0 (en) 1996-09-27 1996-11-13 Cemu Bioteknik Ab Method of sequencing DNA
DE69837913T2 (de) * 1997-04-01 2008-02-07 Solexa Ltd., Saffron Walden Verfahren zur vervielfältigung von nukleinsäure
US20020076735A1 (en) * 1998-09-25 2002-06-20 Williams Lewis T. Diagnostic and therapeutic methods using molecules differentially expressed in cancer cells
AR021833A1 (es) 1998-09-30 2002-08-07 Applied Research Systems Metodos de amplificacion y secuenciacion de acido nucleico
US7056661B2 (en) 1999-05-19 2006-06-06 Cornell Research Foundation, Inc. Method for sequencing nucleic acid molecules
US6056661A (en) 1999-06-14 2000-05-02 General Motors Corporation Multi-range transmission with input split planetary gear set and continuously variable transmission unit
AU7537200A (en) 1999-09-29 2001-04-30 Solexa Ltd. Polynucleotide sequencing
EP1990428B1 (en) * 2000-02-07 2010-12-22 Illumina, Inc. Nucleic acid detection methods using universal priming
US7582420B2 (en) * 2001-07-12 2009-09-01 Illumina, Inc. Multiplex nucleic acid reactions
US6917726B2 (en) 2001-09-27 2005-07-12 Cornell Research Foundation, Inc. Zero-mode clad waveguides for performing spectroscopy with confined effective observation volumes
US7001724B1 (en) 2000-11-28 2006-02-21 Applera Corporation Compositions, methods, and kits for isolating nucleic acids using surfactants and proteases
US7057026B2 (en) 2001-12-04 2006-06-06 Solexa Limited Labelled nucleotides
US20030175828A1 (en) * 2002-03-15 2003-09-18 Lazar James G. Signal amplification by Hybrid Capture
US20070037182A1 (en) 2002-05-28 2007-02-15 Gaskin James Z Multiplex assays for inferring ancestry
DK3002289T3 (en) 2002-08-23 2018-04-23 Illumina Cambridge Ltd MODIFIED NUCLEOTIDES FOR POLYNUCLEOTIDE SEQUENCE
US20090124514A1 (en) * 2003-02-26 2009-05-14 Perlegen Sciences, Inc. Selection probe amplification
WO2005065814A1 (en) 2004-01-07 2005-07-21 Solexa Limited Modified molecular arrays
US7170050B2 (en) 2004-09-17 2007-01-30 Pacific Biosciences Of California, Inc. Apparatus and methods for optical analysis of molecules
JPWO2006054722A1 (ja) * 2004-11-19 2008-06-05 大塚製薬株式会社 遺伝子を用いた熱不安定性フェノタイプ症のリスク診断法
CA2792443A1 (en) * 2005-04-18 2006-10-26 Ryan Parr Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers
GB0514909D0 (en) * 2005-07-20 2005-08-24 Solexa Ltd Methods of nucleic acid amplification and sequencing
GB0514936D0 (en) 2005-07-20 2005-08-24 Solexa Ltd Preparation of templates for nucleic acid sequencing
GB0514910D0 (en) 2005-07-20 2005-08-24 Solexa Ltd Method for sequencing a polynucleotide template
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
CA2631248C (en) 2005-11-28 2016-01-12 Pacific Biosciences Of California, Inc. Uniform surfaces for hybrid material substrates and methods for making and using same
CN100540680C (zh) * 2006-01-24 2009-09-16 中国药品生物制品检定所 乙型肝炎病毒“a”决定簇的突变检测基因芯片
JP2009529876A (ja) * 2006-03-14 2009-08-27 ゲニゾン バイオサイエンシス インコーポレイテッド 核酸を配列決定するための方法および手段
EP3722409A1 (en) 2006-03-31 2020-10-14 Illumina, Inc. Systems and devices for sequence by synthesis analysis
WO2007135368A2 (en) 2006-05-18 2007-11-29 Solexa Limited Dye compounds and the use of their labelled conjugates
WO2008002502A2 (en) 2006-06-23 2008-01-03 Illumina, Inc. Devices and systems for creation of dna cluster arrays
WO2008013893A2 (en) * 2006-07-26 2008-01-31 Yale University Diagnosis and treatment of age related macular degeneration
US7754429B2 (en) 2006-10-06 2010-07-13 Illumina Cambridge Limited Method for pair-wise sequencing a plurity of target polynucleotides
WO2008093098A2 (en) 2007-02-02 2008-08-07 Illumina Cambridge Limited Methods for indexing samples and sequencing multiple nucleotide templates
TWI460602B (zh) 2008-05-16 2014-11-11 Counsyl Inc 廣用的懷孕前篩檢裝置
CA2766312C (en) 2009-06-26 2020-04-14 Gary L. Andersen Methods and systems for phylogenetic analysis
US9023769B2 (en) * 2009-11-30 2015-05-05 Complete Genomics, Inc. cDNA library for nucleic acid sequencing
WO2011156529A2 (en) 2010-06-08 2011-12-15 Nugen Technologies, Inc. Methods and composition for multiplex sequencing
US20130324419A1 (en) * 2010-08-27 2013-12-05 Somasekar Seshagiri Methods for nucleic acid capture and sequencing

Patent Citations (2)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US6558907B2 (en) * 2001-05-16 2003-05-06 Corning Incorporated Methods and compositions for arraying nucleic acids onto a solid support
US20120157322A1 (en) * 2010-09-24 2012-06-21 Samuel Myllykangas Direct Capture, Amplification and Sequencing of Target DNA Using Immobilized Primers

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