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

System and methods for detecting genetic variation Download PDF

Info

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
Authority
AU
Australia
Prior art keywords
cftr
rsl
sequence
disorders
deficiency
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.)
Ceased
Application number
AU2013292610A
Other languages
English (en)
Other versions
AU2013292610A1 (en
Inventor
Clement Chu
Eric Evans
A. Scott Patterson
Hunter RICHARDS
Abhik SHAH
Balaji Srinivasan
Subramaniam SRINIVASAN
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.)
Myriad Womens Health Inc
Original Assignee
Myriad Womens Health 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
Priority claimed from US13/551,584 external-priority patent/US20140024536A1/en
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 US13/665,671 external-priority patent/US9092401B2/en
Application filed by Myriad Womens Health Inc filed Critical Myriad Womens Health Inc
Publication of AU2013292610A1 publication Critical patent/AU2013292610A1/en
Application granted granted Critical
Publication of AU2013292610B2 publication Critical patent/AU2013292610B2/en
Priority to AU2018217306A priority Critical patent/AU2018217306A1/en
Assigned to MYRIAD WOMEN'S HEALTH, INC. reassignment MYRIAD WOMEN'S HEALTH, INC. Request to Amend Deed and Register Assignors: COUNSYL, INC.
Ceased legal-status Critical Current
Anticipated expiration legal-status Critical

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
    • C12Q1/6869—Methods for sequencing
    • 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
    • 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
    • C12Q1/6869—Methods for sequencing
    • C12Q1/6874—Methods for sequencing involving nucleic acid arrays, e.g. sequencing by hybridisation

Landscapes

  • 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
US13/551,584 US20140024536A1 (en) 2012-07-17 2012-07-17 Apparatus and methods for high-throughput sequencing
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
US13/551,590 2012-07-17
US13/551,584 2012-07-17
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

Related Child Applications (1)

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

Publications (2)

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

Family

ID=49949370

Family Applications (2)

Application Number Title Priority Date Filing Date
AU2013292610A Ceased AU2013292610B2 (en) 2012-07-17 2013-07-17 System and methods for detecting genetic variation
AU2018217306A Abandoned AU2018217306A1 (en) 2012-07-17 2018-08-17 System and methods for detecting genetic variation

Family Applications After (1)

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

Country Status (9)

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

Families Citing this family (90)

* 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
CA2865575C (en) 2012-02-27 2024-01-16 Cellular Research, Inc. Compositions and kits for molecular counting
KR102758333B1 (ko) 2013-08-28 2025-01-23 벡톤 디킨슨 앤드 컴퍼니 대량의 동시 단일 세포 분석
US9582877B2 (en) 2013-10-07 2017-02-28 Cellular Research, Inc. Methods and systems for digitally counting features on arrays
US10767222B2 (en) 2013-12-11 2020-09-08 Accuragen Holdings Limited Compositions and methods for detecting rare sequence variants
US11859246B2 (en) 2013-12-11 2024-01-02 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
US11286519B2 (en) 2013-12-11 2022-03-29 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
WO2017062863A1 (en) 2015-10-09 2017-04-13 Accuragen Holdings Limited Methods and compositions for enrichment of amplification products
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
US9857328B2 (en) 2014-12-18 2018-01-02 Agilome, Inc. Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same
CA2971589C (en) 2014-12-18 2021-09-28 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
US10020300B2 (en) 2014-12-18 2018-07-10 Agilome, Inc. Graphene FET devices, systems, and methods of using the same for sequencing nucleic acids
EP3259371B1 (en) 2015-02-19 2020-09-02 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
WO2016138496A1 (en) 2015-02-27 2016-09-01 Cellular Research, Inc. Spatially addressable molecular barcoding
WO2016160844A2 (en) 2015-03-30 2016-10-06 Cellular Research, Inc. Methods and compositions for combinatorial barcoding
EP4582556A3 (en) 2015-04-23 2025-10-08 Becton, Dickinson and Company Methods and compositions for whole transcriptome amplification
CA2977548A1 (en) 2015-04-24 2016-10-27 University Of Utah Research Foundation Methods and systems for multiple taxonomic classification
WO2016196229A1 (en) 2015-06-01 2016-12-08 Cellular Research, Inc. Methods for rna quantification
JP6940484B2 (ja) 2015-09-11 2021-09-29 セルラー リサーチ， インコーポレイテッド ライブラリー正規化のための方法および組成物
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
WO2017096322A1 (en) 2015-12-03 2017-06-08 Accuragen Holdings Limited Methods and compositions for forming ligation products
CA3016077A1 (en) 2016-03-22 2017-09-28 Counsyl, Inc. Combinatorial dna screening
WO2017172958A1 (en) * 2016-03-29 2017-10-05 Regeneron Pharmaceuticals, Inc. Genetic variant-phenotype analysis system and methods of use
JP7129343B2 (ja) 2016-05-02 2022-09-01 ベクトン・ディキンソン・アンド・カンパニー 正確な分子バーコーディング
CN109511265B (zh) * 2016-05-16 2023-07-14 安可济控股有限公司 通过链鉴定改进测序的方法
WO2017201081A1 (en) 2016-05-16 2017-11-23 Agilome, 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
ES2979395T3 (es) 2016-05-26 2024-09-25 Becton Dickinson Co Métodos de ajuste del recuento de etiquetas moleculares
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
WO2017218727A1 (en) * 2016-06-15 2017-12-21 President And Fellows Of Harvard College Methods for rule-based genome design
CN109844133A (zh) 2016-08-15 2019-06-04 安可济控股有限公司 检测罕见序列变体的组合物和方法
CN109791157B (zh) 2016-09-26 2022-06-07 贝克顿迪金森公司 使用具有条形码化的寡核苷酸序列的试剂测量蛋白质表达
IL266197B2 (en) * 2016-10-24 2024-03-01 Geneinfosec Inc Hiding information contained within nucleic acids
US11164659B2 (en) 2016-11-08 2021-11-02 Becton, Dickinson And Company Methods for expression profile classification
JP7228510B2 (ja) 2016-11-08 2023-02-24 ベクトン・ディキンソン・アンド・カンパニー 細胞標識分類の方法
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
ES2961580T3 (es) 2017-01-13 2024-03-12 Cellular Res Inc Revestimiento hidrófilo de canales de fluidos
CN110382708A (zh) 2017-02-01 2019-10-25 赛卢拉研究公司 使用阻断性寡核苷酸进行选择性扩增
CN110719959B (zh) 2017-06-05 2021-08-06 贝克顿迪金森公司 针对单细胞的样品索引
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
EP3728636B1 (en) 2017-12-19 2024-09-11 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
EP3784797A1 (en) 2018-04-27 2021-03-03 X Gen US Co. Methods and compositions for preparing polynucleotides
CN112272710A (zh) 2018-05-03 2021-01-26 贝克顿迪金森公司 高通量多组学样品分析
JP7358388B2 (ja) 2018-05-03 2023-10-10 ベクトン・ディキンソン・アンド・カンパニー 反対側の転写物末端における分子バーコーディング
WO2019241290A1 (en) 2018-06-12 2019-12-19 Accuragen Holdings Limited Methods and compositions for forming ligation products
EP3815091A4 (en) * 2018-06-29 2022-03-23 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
ES2992135T3 (es) 2018-10-01 2024-12-09 Becton Dickinson Co Determinar secuencias de transcripción 5’
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
US11932849B2 (en) 2018-11-08 2024-03-19 Becton, Dickinson And Company Whole transcriptome analysis of single cells using random priming
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
US11492660B2 (en) 2018-12-13 2022-11-08 Becton, Dickinson And Company Selective extension in single cell whole transcriptome analysis
US11371076B2 (en) 2019-01-16 2022-06-28 Becton, Dickinson And Company Polymerase chain reaction normalization through primer titration
ES2945227T3 (es) 2019-01-23 2023-06-29 Becton Dickinson Co Oligonucleótidos asociados con anticuerpos
WO2020167920A1 (en) 2019-02-14 2020-08-20 Cellular Research, Inc. 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
CN120099137A (zh) 2019-07-22 2025-06-06 贝克顿迪金森公司 单细胞染色质免疫沉淀测序测定
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
JP7522189B2 (ja) 2019-11-08 2024-07-24 ベクトン・ディキンソン・アンド・カンパニー 免疫レパートリーシーケンシングのための完全長ｖ（ｄ）ｊ情報を得るためのランダムプライミングの使用
US11649497B2 (en) 2020-01-13 2023-05-16 Becton, Dickinson And Company Methods and compositions for quantitation of proteins and RNA
WO2021146219A1 (en) 2020-01-13 2021-07-22 Becton, Dickinson And Company Cell capture using du-containing oligonucleotides
WO2021155057A1 (en) 2020-01-29 2021-08-05 Becton, Dickinson And Company Barcoded wells for spatial mapping of single cells through sequencing
WO2021173719A1 (en) 2020-02-25 2021-09-02 Becton, Dickinson And Company Bi-specific probes to enable the use of single-cell samples as single color compensation control
US11967430B2 (en) 2020-04-30 2024-04-23 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
US11610645B2 (en) * 2020-04-30 2023-03-21 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
US11661625B2 (en) 2020-05-14 2023-05-30 Becton, Dickinson And Company Primers for immune repertoire profiling
US12157913B2 (en) 2020-06-02 2024-12-03 Becton, Dickinson And Company Oligonucleotides and beads for 5 prime gene expression assay
US11932901B2 (en) 2020-07-13 2024-03-19 Becton, Dickinson And Company Target enrichment using nucleic acid probes for scRNAseq
US12391940B2 (en) 2020-07-31 2025-08-19 Becton, Dickinson And Company Single cell assay for transposase-accessible chromatin
US12553077B2 (en) * 2020-10-01 2026-02-17 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
EP4247967A1 (en) 2020-11-20 2023-09-27 Becton, Dickinson and Company Profiling of highly expressed and lowly expressed proteins
CN116685850A (zh) 2020-12-15 2023-09-01 贝克顿迪金森公司 单细胞分泌组分析
WO2024158685A1 (en) 2023-01-23 2024-08-02 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
ES2204913T3 (es) 1993-04-12 2004-05-01 Northwestern University Metodo para formacion de oligonucleotidos.
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
JP2002503954A (ja) 1997-04-01 2002-02-05 グラクソ、グループ、リミテッド 核酸増幅法
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
US7582420B2 (en) * 2001-07-12 2009-09-01 Illumina, Inc. Multiplex nucleic acid reactions
DK1259643T3 (da) * 2000-02-07 2009-02-23 Illumina Inc Fremgangsmåde til detektion af nukleinsyre ved anvendelse af universel priming
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
WO2004018497A2 (en) 2002-08-23 2004-03-04 Solexa Limited Modified nucleotides for polynucleotide sequencing
US20090124514A1 (en) * 2003-02-26 2009-05-14 Perlegen Sciences, Inc. Selection probe amplification
EP1701785A1 (en) 2004-01-07 2006-09-20 Solexa Ltd. Modified molecular arrays
US7170050B2 (en) 2004-09-17 2007-01-30 Pacific Biosciences Of California, Inc. Apparatus and methods for optical analysis of molecules
CA2588053A1 (en) * 2004-11-19 2006-05-26 Otsuka Pharmaceutical Co., Ltd. Method of diagnosing the risk of thermolabile phenotype diseases by using gene
EP1877559B1 (en) * 2005-04-18 2010-10-13 Mitomics Inc. Mitochondrial mutations and rearrangements as a diagnostic tool for the detection of sun exposure, prostate cancer and other cancers
GB0514910D0 (en) 2005-07-20 2005-08-24 Solexa Ltd Method for sequencing a polynucleotide template
GB0514936D0 (en) 2005-07-20 2005-08-24 Solexa Ltd Preparation of templates for nucleic acid sequencing
GB0514909D0 (en) * 2005-07-20 2005-08-24 Solexa Ltd Methods of nucleic acid amplification and sequencing
GB0522310D0 (en) 2005-11-01 2005-12-07 Solexa Ltd Methods of preparing libraries of template polynucleotides
WO2007064597A2 (en) 2005-11-28 2007-06-07 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
CN101460633A (zh) * 2006-03-14 2009-06-17 基尼宗生物科学公司 用于核酸测序的方法和装置
CA2648149A1 (en) 2006-03-31 2007-11-01 Solexa, Inc. Systems and devices for sequence by synthesis analysis
USRE49362E1 (en) 2006-05-18 2023-01-10 Illumina Cambridge Limited Dye compounds and the use of their labelled conjugates
EP2032686B1 (en) 2006-06-23 2022-01-12 Illumina, Inc. System and method for creation of dna cluster arrays
ES2391788T3 (es) * 2006-07-26 2012-11-29 Yale University, Inc. Diagnóstico y tratamiento de degeneración macular relacionada con la edad
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
US20120165215A1 (en) 2009-06-26 2012-06-28 The Regents Of The University Of California Methods and systems for phylogenetic analysis
US9023769B2 (en) * 2009-11-30 2015-05-05 Complete Genomics, Inc. cDNA library for nucleic acid sequencing
EP2580378A4 (en) 2010-06-08 2014-01-01 Nugen Technologies Inc MULTIPLEX SEQUENCING METHODS AND COMPOSITION
CA2803693A1 (en) * 2010-08-27 2012-03-01 Genentech, Inc. 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

Also Published As

Publication number Publication date
JP2018038417A (ja) 2018-03-15
JP2015531588A (ja) 2015-11-05
EP3243937A1 (en) 2017-11-15
CN108456717A (zh) 2018-08-28
EP2875173A2 (en) 2015-05-27
IL236269A0 (en) 2015-02-26
EP2875173B1 (en) 2017-06-28
WO2014015084A3 (en) 2014-03-06
CA2876505A1 (en) 2014-01-23
JP2018019701A (ja) 2018-02-08
WO2014015084A2 (en) 2014-01-23
AU2018217306A1 (en) 2018-09-20
CN104812947A (zh) 2015-07-29
JP6285929B2 (ja) 2018-02-28
HK1246372A1 (en) 2018-09-07
CN104812947B (zh) 2018-04-27
AU2013292610A1 (en) 2015-01-22
ES2637538T3 (es) 2017-10-13
EP2875173A4 (en) 2015-12-30
JP6234629B1 (ja) 2017-11-22

Similar Documents

Publication Publication Date Title
US20220254443A1 (en) System and methods for detecting genetic variation
AU2013292610B2 (en) System and methods for detecting genetic variation
EP3947723B1 (en) Methods and compositions for analyzing nucleic acid
Desai et al. Next‐generation sequencing: ready for the clinics?
US20140024541A1 (en) Methods and compositions for high-throughput sequencing
JP2022120165A (ja) 合成核酸スパイクイン
US20140024542A1 (en) Methods and compositions for enrichment of target polynucleotides
Ragoussis Genotyping technologies for genetic research
US20240352511A1 (en) Systems and methods for identifying and quantifying gene copy number variations
Shin et al. CRISPR–Cas9-targeted fragmentation and selective sequencing enable massively parallel microsatellite analysis
Zhang et al. Application of next generation sequencing to molecular diagnosis of inherited diseases
JP2020000253A (ja) 腫瘍試料の多重遺伝子分析の最適化
US20140024536A1 (en) Apparatus and methods for high-throughput sequencing
CN112752852A (zh) 用于检测供体来源的细胞游离dna的方法
JP7434243B2 (ja) 遺伝子サンプルを識別且つ区別するためのシステムと方法
CN107889508A (zh) 使用环化的配对文库和鸟枪测序检测基因组变异的方法
US20200140933A1 (en) Polymorphism detection with increased accuracy
JP2018536387A (ja) びまん性大細胞型ｂ細胞性リンパ腫（ｄｌｂｃｌ）を亜型決定するための方法
EP4172357A1 (en) Methods and compositions for analyzing nucleic acid
JP2023531720A5 (https=)
Kvikstad et al. A high throughput screen for active human transposable elements
Dorschner Next-Generation Sequencing for Gene Panels
HK1260281B (zh) 拷贝数变异的检测和分类
HK40050233A (en) Methods for detection of donor-derived cell-free dna

Legal Events

Date Code Title Description
FGA Letters patent sealed or granted (standard patent)
HB Alteration of name in register

Owner name: MYRIAD WOMEN'S HEALTH, INC.

Free format text: FORMER NAME(S): COUNSYL, INC.

MK14 Patent ceased section 143(a) (annual fees not paid) or expired