ES2869292T3 - Cartografía rápida y exacta de lecturas de secuenciación dirigida - Google Patents
Cartografía rápida y exacta de lecturas de secuenciación dirigida Download PDFInfo
- Publication number
- ES2869292T3 ES2869292T3 ES13795516T ES13795516T ES2869292T3 ES 2869292 T3 ES2869292 T3 ES 2869292T3 ES 13795516 T ES13795516 T ES 13795516T ES 13795516 T ES13795516 T ES 13795516T ES 2869292 T3 ES2869292 T3 ES 2869292T3
- Authority
- ES
- Spain
- Prior art keywords
- target region
- region
- alternate
- sequence
- variations
- 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.)
- Active
Links
- 238000012163 sequencing technique Methods 0.000 title claims abstract description 67
- 238000013507 mapping Methods 0.000 title description 7
- 238000000034 method Methods 0.000 claims abstract description 77
- 230000035772 mutation Effects 0.000 claims description 108
- 239000000523 sample Substances 0.000 claims description 72
- 238000002474 experimental method Methods 0.000 claims description 20
- 230000001052 transient effect Effects 0.000 claims 1
- 230000003321 amplification Effects 0.000 description 29
- 238000003199 nucleic acid amplification method Methods 0.000 description 29
- 230000008569 process Effects 0.000 description 20
- 108090000623 proteins and genes Proteins 0.000 description 12
- 230000007704 transition Effects 0.000 description 12
- 238000004590 computer program Methods 0.000 description 11
- 206010028980 Neoplasm Diseases 0.000 description 10
- 210000000349 chromosome Anatomy 0.000 description 10
- 238000004364 calculation method Methods 0.000 description 9
- 239000012472 biological sample Substances 0.000 description 8
- 239000012634 fragment Substances 0.000 description 8
- 238000004458 analytical method Methods 0.000 description 7
- 201000011510 cancer Diseases 0.000 description 7
- 108020004414 DNA Proteins 0.000 description 5
- 238000002869 basic local alignment search tool Methods 0.000 description 5
- 238000012360 testing method Methods 0.000 description 5
- 108091093088 Amplicon Proteins 0.000 description 4
- 108700024394 Exon Proteins 0.000 description 4
- 241000700605 Viruses Species 0.000 description 4
- 238000013459 approach Methods 0.000 description 4
- 210000004027 cell Anatomy 0.000 description 4
- 238000012217 deletion Methods 0.000 description 4
- 238000013461 design Methods 0.000 description 4
- 239000004005 microsphere Substances 0.000 description 4
- 238000003752 polymerase chain reaction Methods 0.000 description 4
- 238000006467 substitution reaction Methods 0.000 description 4
- 102000009512 Cyclin-Dependent Kinase Inhibitor p15 Human genes 0.000 description 3
- 108010009356 Cyclin-Dependent Kinase Inhibitor p15 Proteins 0.000 description 3
- 230000008901 benefit Effects 0.000 description 3
- 230000005540 biological transmission Effects 0.000 description 3
- 238000002493 microarray Methods 0.000 description 3
- 238000011160 research Methods 0.000 description 3
- 108090000790 Enzymes Proteins 0.000 description 2
- 102000004190 Enzymes Human genes 0.000 description 2
- 238000001574 biopsy Methods 0.000 description 2
- 230000008859 change Effects 0.000 description 2
- 230000037430 deletion Effects 0.000 description 2
- 238000011161 development Methods 0.000 description 2
- 229920001519 homopolymer Polymers 0.000 description 2
- 238000003780 insertion Methods 0.000 description 2
- 230000037431 insertion Effects 0.000 description 2
- 108020004707 nucleic acids Proteins 0.000 description 2
- 150000007523 nucleic acids Chemical class 0.000 description 2
- 102000039446 nucleic acids Human genes 0.000 description 2
- 230000003287 optical effect Effects 0.000 description 2
- 108020005345 3' Untranslated Regions Proteins 0.000 description 1
- FWMNVWWHGCHHJJ-SKKKGAJSSA-N 4-amino-1-[(2r)-6-amino-2-[[(2r)-2-[[(2r)-2-[[(2r)-2-amino-3-phenylpropanoyl]amino]-3-phenylpropanoyl]amino]-4-methylpentanoyl]amino]hexanoyl]piperidine-4-carboxylic acid Chemical compound C([C@H](C(=O)N[C@H](CC(C)C)C(=O)N[C@H](CCCCN)C(=O)N1CCC(N)(CC1)C(O)=O)NC(=O)[C@H](N)CC=1C=CC=CC=1)C1=CC=CC=C1 FWMNVWWHGCHHJJ-SKKKGAJSSA-N 0.000 description 1
- 108020003589 5' Untranslated Regions Proteins 0.000 description 1
- 108700028369 Alleles Proteins 0.000 description 1
- 101150041972 CDKN2A gene Proteins 0.000 description 1
- 102100029758 Cadherin-4 Human genes 0.000 description 1
- 101150069156 Cdkn2b gene Proteins 0.000 description 1
- 108091092195 Intron Proteins 0.000 description 1
- 102000003960 Ligases Human genes 0.000 description 1
- 108090000364 Ligases Proteins 0.000 description 1
- 241001465754 Metazoa Species 0.000 description 1
- 108700019961 Neoplasm Genes Proteins 0.000 description 1
- 102000048850 Neoplasm Genes Human genes 0.000 description 1
- 238000012356 Product development Methods 0.000 description 1
- 108010086890 R-cadherin Proteins 0.000 description 1
- 230000003416 augmentation Effects 0.000 description 1
- 239000003795 chemical substances by application Substances 0.000 description 1
- 238000010367 cloning Methods 0.000 description 1
- 238000001514 detection method Methods 0.000 description 1
- 238000003745 diagnosis Methods 0.000 description 1
- 238000010586 diagram Methods 0.000 description 1
- 230000004069 differentiation Effects 0.000 description 1
- 201000010099 disease Diseases 0.000 description 1
- 208000037265 diseases, disorders, signs and symptoms Diseases 0.000 description 1
- 102000052116 epidermal growth factor receptor activity proteins Human genes 0.000 description 1
- 108700015053 epidermal growth factor receptor activity proteins Proteins 0.000 description 1
- 230000006870 function Effects 0.000 description 1
- 238000011835 investigation Methods 0.000 description 1
- 238000012986 modification Methods 0.000 description 1
- 230000004048 modification Effects 0.000 description 1
- YOHYSYJDKVYCJI-UHFFFAOYSA-N n-[3-[[6-[3-(trifluoromethyl)anilino]pyrimidin-4-yl]amino]phenyl]cyclopropanecarboxamide Chemical group FC(F)(F)C1=CC=CC(NC=2N=CN=C(NC=3C=C(NC(=O)C4CC4)C=CC=3)C=2)=C1 YOHYSYJDKVYCJI-UHFFFAOYSA-N 0.000 description 1
- 238000007481 next generation sequencing Methods 0.000 description 1
- 108700042657 p16 Genes Proteins 0.000 description 1
- 230000002093 peripheral effect Effects 0.000 description 1
- 238000012545 processing Methods 0.000 description 1
- 238000010187 selection method Methods 0.000 description 1
- 230000035945 sensitivity Effects 0.000 description 1
- 238000012549 training Methods 0.000 description 1
- 238000002604 ultrasonography Methods 0.000 description 1
- 230000003612 virological effect Effects 0.000 description 1
Classifications
-
- 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
Landscapes
- Physics & Mathematics (AREA)
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US13/689,314 US9218450B2 (en) | 2012-11-29 | 2012-11-29 | Accurate and fast mapping of reads to genome |
| PCT/EP2013/074799 WO2014083023A1 (en) | 2012-11-29 | 2013-11-27 | Accurate and fast mapping of targeted sequencing reads |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| ES2869292T3 true ES2869292T3 (es) | 2021-10-25 |
Family
ID=49641777
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| ES13795516T Active ES2869292T3 (es) | 2012-11-29 | 2013-11-27 | Cartografía rápida y exacta de lecturas de secuenciación dirigida |
Country Status (7)
| Country | Link |
|---|---|
| US (2) | US9218450B2 (enExample) |
| EP (1) | EP2926288B1 (enExample) |
| JP (1) | JP6240210B2 (enExample) |
| CN (1) | CN104937598B (enExample) |
| CA (1) | CA2891731C (enExample) |
| ES (1) | ES2869292T3 (enExample) |
| WO (1) | WO2014083023A1 (enExample) |
Families Citing this family (25)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| DK3246416T3 (da) | 2011-04-15 | 2024-09-02 | Univ Johns Hopkins | Sikkert sekventeringssystem |
| ES2886507T5 (es) | 2012-10-29 | 2024-11-15 | Univ Johns Hopkins | Prueba de Papanicolaou para cánceres de ovario y de endometrio |
| EP3143537B1 (en) * | 2014-05-12 | 2023-03-01 | Roche Diagnostics GmbH | Rare variant calls in ultra-deep sequencing |
| US20180032673A1 (en) * | 2014-09-03 | 2018-02-01 | Otsuka Pharmaceutical Co., Ltd. | Pathology determination assistance device, method and storage medium |
| US20160125130A1 (en) * | 2014-11-05 | 2016-05-05 | Agilent Technologies, Inc. | Method for assigning target-enriched sequence reads to a genomic location |
| EP3235010A4 (en) | 2014-12-18 | 2018-08-29 | Agilome, Inc. | Chemically-sensitive field effect transistor |
| US10020300B2 (en) | 2014-12-18 | 2018-07-10 | Agilome, 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 |
| 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 |
| US9857328B2 (en) | 2014-12-18 | 2018-01-02 | Agilome, Inc. | Chemically-sensitive field effect transistors, systems and methods for manufacturing and using the same |
| US20160300013A1 (en) * | 2015-04-10 | 2016-10-13 | Agilent Technologies, Inc. | METHOD FOR SIMULTANEOUS DETECTION OF GENOME-WIDE COPY NUMBER CHANGES, cnLOH, INDELS, AND GENE MUTATIONS |
| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
| JP6675164B2 (ja) * | 2015-07-28 | 2020-04-01 | 株式会社理研ジェネシス | 変異判定方法、変異判定プログラムおよび記録媒体 |
| WO2017027653A1 (en) | 2015-08-11 | 2017-02-16 | The Johns Hopkins University | Assaying ovarian cyst fluid |
| CN109074426B (zh) | 2016-02-12 | 2022-07-26 | 瑞泽恩制药公司 | 用于检测异常核型的方法和系统 |
| WO2017201081A1 (en) | 2016-05-16 | 2017-11-23 | Agilome, Inc. | Graphene fet devices, systems, and methods of using the same for sequencing nucleic acids |
| US20180025365A1 (en) * | 2016-07-21 | 2018-01-25 | Wal-Mart Stores, Inc. | Vector-based characterizations of products and individuals with respect to selecting items for store locations |
| CN111868260B (zh) | 2017-08-07 | 2025-02-21 | 约翰斯霍普金斯大学 | 用于评估和治疗癌症的方法和材料 |
| JP7320345B2 (ja) * | 2017-10-27 | 2023-08-03 | シスメックス株式会社 | 遺伝子解析方法、遺伝子解析装置、遺伝子解析システム、プログラム、および記録媒体 |
| JP7054133B2 (ja) | 2017-11-09 | 2022-04-13 | 国立研究開発法人国立がん研究センター | 配列解析方法、配列解析装置、参照配列の生成方法、参照配列生成装置、プログラム、および記録媒体 |
| JP6710427B2 (ja) * | 2017-12-29 | 2020-06-17 | アクト ゲノミクス (アイピー) カンパニー リミテッド | 配列アライメントおよびバリアントコールのための方法およびシステム |
| CN115516108A (zh) | 2020-02-14 | 2022-12-23 | 约翰斯霍普金斯大学 | 评估核酸的方法和材料 |
| CN111477274B (zh) * | 2020-04-02 | 2020-11-24 | 上海之江生物科技股份有限公司 | 微生物目标片段中特异性区域的识别方法、装置及应用 |
| EP4147241A1 (en) * | 2020-05-08 | 2023-03-15 | Illumina, Inc. | Genome sequencing and detection techniques |
Family Cites Families (8)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| UY24389A1 (es) * | 1995-12-06 | 2001-10-25 | Karlsruhe Forschzent | Composición farmacéutica para el tratamiento de carcinoma de epitelio plano |
| US7809509B2 (en) | 2001-05-08 | 2010-10-05 | Ip Genesis, Inc. | Comparative mapping and assembly of nucleic acid sequences |
| US20030138778A1 (en) * | 2001-11-30 | 2003-07-24 | Garner Harold R. | Prediction of disease-causing alleles from sequence context |
| US20040229269A1 (en) | 2003-05-15 | 2004-11-18 | Ghazala Hashmi | Hybridization-mediated analysis of polymorphisms |
| WO2006073439A2 (en) * | 2004-04-23 | 2006-07-13 | Oxonica, Inc. | Surface enhanced spectroscpy-active composite nanop articles and their application in analysis and diagnosis |
| CN1277924C (zh) * | 2004-06-25 | 2006-10-04 | 湖南西城杂交水稻基因科技有限公司 | 利用可转化大片段基因组文库发掘野生稻有利基因的方法 |
| US20140066317A1 (en) * | 2012-09-04 | 2014-03-06 | Guardant Health, Inc. | Systems and methods to detect rare mutations and copy number variation |
| KR102393608B1 (ko) * | 2012-09-04 | 2022-05-03 | 가던트 헬쓰, 인크. | 희귀 돌연변이 및 카피수 변이를 검출하기 위한 시스템 및 방법 |
-
2012
- 2012-11-29 US US13/689,314 patent/US9218450B2/en active Active
-
2013
- 2013-11-27 JP JP2015544446A patent/JP6240210B2/ja active Active
- 2013-11-27 WO PCT/EP2013/074799 patent/WO2014083023A1/en not_active Ceased
- 2013-11-27 CN CN201380062074.1A patent/CN104937598B/zh active Active
- 2013-11-27 CA CA2891731A patent/CA2891731C/en active Active
- 2013-11-27 ES ES13795516T patent/ES2869292T3/es active Active
- 2013-11-27 EP EP13795516.7A patent/EP2926288B1/en active Active
-
2015
- 2015-11-30 US US14/954,808 patent/US10127351B2/en active Active
Also Published As
| Publication number | Publication date |
|---|---|
| JP6240210B2 (ja) | 2017-11-29 |
| US20160092630A1 (en) | 2016-03-31 |
| CA2891731C (en) | 2017-09-12 |
| CN104937598B (zh) | 2017-11-07 |
| CN104937598A (zh) | 2015-09-23 |
| US9218450B2 (en) | 2015-12-22 |
| CA2891731A1 (en) | 2014-06-05 |
| JP2015536661A (ja) | 2015-12-24 |
| US20140149049A1 (en) | 2014-05-29 |
| EP2926288A1 (en) | 2015-10-07 |
| WO2014083023A1 (en) | 2014-06-05 |
| EP2926288B1 (en) | 2021-03-17 |
| US10127351B2 (en) | 2018-11-13 |
Similar Documents
| Publication | Publication Date | Title |
|---|---|---|
| ES2869292T3 (es) | Cartografía rápida y exacta de lecturas de secuenciación dirigida | |
| US20240084376A1 (en) | Error suppression in sequenced dna fragments using redundant reads with unique molecular indices (umis) | |
| ES3025782T3 (en) | Methods and systems for generation and error-correction of unique molecular index sets with heterogeneous molecular lengths | |
| Sheng et al. | Multi-perspective quality control of Illumina RNA sequencing data analysis | |
| Hutter et al. | FrogCap: A modular sequence capture probe‐set for phylogenomics and population genetics for all frogs, assessed across multiple phylogenetic scales | |
| ES2915399T3 (es) | Detección de expansiones de repetición con datos de secuenciación de lectura corta | |
| ES2697804T5 (es) | Proceso de secuenciación | |
| Orton et al. | Bioinformatics tools for analysing viral genomic data | |
| JP2016518822A (ja) | アセンブルされていない配列情報、確率論的方法、及び形質固有(trait−specific)のデータベースカタログを用いた生物材料の特性解析 | |
| CN110875082A (zh) | 一种基于靶向扩增测序的微生物检测方法和装置 | |
| CN112331268B (zh) | 目标物种特有序列的获取方法及目标物种检测方法 | |
| US20180106806A1 (en) | Tumor Analytical Methods | |
| Kearse et al. | The Geneious 6.0. 3 read mapper | |
| Pérot et al. | Microarray-based identification of individual HERV loci expression: application to biomarker discovery in prostate cancer | |
| Chacon et al. | Characterization by restriction fragment length polymorphism and sequence analysis of field and vaccine strains of infectious laryngotracheitis virus involved in severe outbreaks | |
| CN111524548A (zh) | 用于检测igh重排的方法、计算设备和计算机存储介质 | |
| WO2016193846A2 (en) | Degenerate primer sets | |
| CN106834476B (zh) | 一种乳腺癌检测试剂盒 | |
| US20210164033A1 (en) | Method and system for nucleic acid sequencing | |
| Prater et al. | All the single cells: Single‐cell transcriptomics/epigenomics experimental design and analysis considerations for glial biologists | |
| hashem Al-Zubaidy et al. | Determine the Whole Genome Sequences of SARS-COV-2 Isolated from Iraqi Patients Using NGS Method | |
| Deshpande et al. | Reconstructing and characterizing focal amplifications in cancer using AmpliconArchitect | |
| Ribeiro | Transcriptional regulation of neurogenesis by the proneural factor Ascl1 | |
| Koo et al. | Amplification of select autonomous HERV loci and surrounding host gene transcription in monocytes from patients with post-acute sequelae of COVID-19 | |
| Sio et al. | Mining polymorphic SSRs from individual genome sequences |