MX2017012367A - Producto en desarrollo de analisis de secuenciacion de alineacion y variante. - Google Patents
Producto en desarrollo de analisis de secuenciacion de alineacion y variante.Info
- Publication number
- MX2017012367A MX2017012367A MX2017012367A MX2017012367A MX2017012367A MX 2017012367 A MX2017012367 A MX 2017012367A MX 2017012367 A MX2017012367 A MX 2017012367A MX 2017012367 A MX2017012367 A MX 2017012367A MX 2017012367 A MX2017012367 A MX 2017012367A
- Authority
- MX
- Mexico
- Prior art keywords
- amplification
- sequence
- ngs
- solid
- alignment
- Prior art date
Links
Classifications
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- 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
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- 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
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- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N3/00—Computing arrangements based on biological models
- G06N3/12—Computing arrangements based on biological models using genetic models
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- G—PHYSICS
- G06—COMPUTING; CALCULATING OR COUNTING
- G06N—COMPUTING ARRANGEMENTS BASED ON SPECIFIC COMPUTATIONAL MODELS
- G06N5/00—Computing arrangements using knowledge-based models
- G06N5/04—Inference or reasoning models
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- 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
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- 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
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- 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
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- 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
- C12Q2535/00—Reactions characterised by the assay type for determining the identity of a nucleotide base or a sequence of oligonucleotides
- C12Q2535/122—Massive parallel 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
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Physics & Mathematics (AREA)
- Organic Chemistry (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Bioinformatics & Cheminformatics (AREA)
- General Health & Medical Sciences (AREA)
- Biotechnology (AREA)
- Wood Science & Technology (AREA)
- Zoology (AREA)
- Theoretical Computer Science (AREA)
- Genetics & Genomics (AREA)
- Immunology (AREA)
- General Engineering & Computer Science (AREA)
- Molecular Biology (AREA)
- Bioinformatics & Computational Biology (AREA)
- Evolutionary Biology (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Medical Informatics (AREA)
- Pathology (AREA)
- Microbiology (AREA)
- Biochemistry (AREA)
- Hospice & Palliative Care (AREA)
- Oncology (AREA)
- Computing Systems (AREA)
- Mathematical Physics (AREA)
- Software Systems (AREA)
- General Physics & Mathematics (AREA)
- Artificial Intelligence (AREA)
- Computational Linguistics (AREA)
- Evolutionary Computation (AREA)
- Data Mining & Analysis (AREA)
- Biomedical Technology (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
Abstract
Se proporcionan sistemas y métodos para analizar datos de secuencia genéticos a partir de plataformas de secuencia de siguiente generación (NGS). También se proporcionan métodos para la preparación de muestras para análisis de secuencia de ácido nucleico mediante NGS. La llamada de variante se realiza con un llamador de variante GATK modificado. El mapeo de las lecturas para una secuencia de referencia genómica se realiza con un Alineador Burrows Wheeler (BWA) y no comprende recorte suave. La secuencia de referencia genómica es referencia de genoma humano GRCh37.1. El método de secuenciación comprende PCR en emulsión (emPCR), amplificación de círculo rodante, o amplificación en fase sólida. En algunas modalidades, la amplificación en fase sólida es amplificación de puente clonal.
Applications Claiming Priority (3)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US201562138620P | 2015-03-26 | 2015-03-26 | |
US201562253908P | 2015-11-11 | 2015-11-11 | |
PCT/US2016/024319 WO2016154584A1 (en) | 2015-03-26 | 2016-03-25 | Alignment and variant sequencing analysis pipeline |
Publications (1)
Publication Number | Publication Date |
---|---|
MX2017012367A true MX2017012367A (es) | 2017-12-14 |
Family
ID=56978583
Family Applications (2)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2017012367A MX2017012367A (es) | 2015-03-26 | 2016-03-25 | Producto en desarrollo de analisis de secuenciacion de alineacion y variante. |
MX2022009242A MX2022009242A (es) | 2015-03-26 | 2017-09-26 | Producto en desarrollo de analisis de secuenciacion de alineacion y variante. |
Family Applications After (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
MX2022009242A MX2022009242A (es) | 2015-03-26 | 2017-09-26 | Producto en desarrollo de analisis de secuenciacion de alineacion y variante. |
Country Status (8)
Country | Link |
---|---|
US (1) | US20180051329A1 (es) |
EP (2) | EP3274475B1 (es) |
CN (2) | CN116042833A (es) |
BR (1) | BR112017020363A2 (es) |
CA (1) | CA2980327A1 (es) |
HK (1) | HK1250520A1 (es) |
MX (2) | MX2017012367A (es) |
WO (1) | WO2016154584A1 (es) |
Families Citing this family (21)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
AU2012242847B2 (en) | 2011-04-15 | 2017-01-19 | The Johns Hopkins University | Safe sequencing system |
AU2013338393C1 (en) | 2012-10-29 | 2024-07-25 | The Johns Hopkins University | Papanicolaou test for ovarian and endometrial cancers |
US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
US11286531B2 (en) | 2015-08-11 | 2022-03-29 | The Johns Hopkins University | Assaying ovarian cyst fluid |
NZ745249A (en) | 2016-02-12 | 2021-07-30 | Regeneron Pharma | Methods and systems for detection of abnormal karyotypes |
US10600499B2 (en) | 2016-07-13 | 2020-03-24 | Seven Bridges Genomics Inc. | Systems and methods for reconciling variants in sequence data relative to reference sequence data |
US10296842B2 (en) | 2017-07-21 | 2019-05-21 | Helix OpCo, LLC | Genomic services system with dual-phase genotype imputation |
US10622095B2 (en) * | 2017-07-21 | 2020-04-14 | Helix OpCo, LLC | Genomic services platform supporting multiple application providers |
WO2019067092A1 (en) | 2017-08-07 | 2019-04-04 | The Johns Hopkins University | METHODS AND SUBSTANCES FOR THE EVALUATION AND TREATMENT OF CANCER |
BR112020007449A2 (pt) | 2017-10-17 | 2020-10-20 | Jungla Llc | plataforma de evidência molecular para otimização auditável e contínua de interpretação de variantes em testes e análises genéticas e genômicas |
WO2019169304A1 (en) * | 2018-03-02 | 2019-09-06 | Mirna Analytics Llc | Biomarker detection in pulmonary hypertension |
JP6891151B2 (ja) * | 2018-08-31 | 2021-06-18 | シスメックス株式会社 | 解析方法、情報処理装置、遺伝子解析システム、プログラム、記録媒体 |
CN109321646A (zh) * | 2018-09-12 | 2019-02-12 | 山东省农作物种质资源中心 | 基于ngs读段与参考序列比对的虚拟pcr方法 |
CA3116710A1 (en) * | 2018-10-17 | 2020-04-23 | Quest Diagnostics Investments Llc | Genomic sequencing selection system |
WO2020242603A1 (en) * | 2019-05-24 | 2020-12-03 | Qiagen Sciences Llc | Methods and usage for quantitative evaluation of clonal amplified products and sequencing qualities |
EP3959342A4 (en) * | 2019-12-23 | 2023-05-24 | Active Motif, Inc. | METHODS AND KITS FOR ENRICHMENT AND DETECTION OF DNA AND RNA MODIFICATIONS AND FUNCTIONAL MOTORS |
CN111243666B (zh) * | 2020-01-08 | 2023-04-07 | 华南理工大学 | 一种基于Nextflow的环状核糖核酸自动化分析方法及系统 |
KR102345994B1 (ko) * | 2020-01-22 | 2022-01-03 | 가톨릭대학교 산학협력단 | Ngs 분석에서의 질병 관련 유전자 선별 방법 및 장치 |
EP4332975A1 (en) * | 2022-08-29 | 2024-03-06 | Siemens Healthcare Diagnostics Products GmbH | Method for eliminating non-natural sequence portions from fastq sequence data |
WO2024130120A1 (en) * | 2022-12-16 | 2024-06-20 | Foundation Medicine, Inc. | Library preparation and analytical methods for preserving topological information of cell-free dna |
CN116864007B (zh) * | 2023-09-05 | 2023-12-26 | 深圳人体密码基因科技有限公司 | 基因检测高通量测序数据的分析方法及系统 |
Family Cites Families (9)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
CN101037690B (zh) * | 2006-03-16 | 2011-07-20 | 国家人口计生委科学技术研究所 | 具有新的单核苷酸多态性的brca1基因变体和其编码的蛋白质变体 |
CN101200766B (zh) * | 2007-12-24 | 2012-06-06 | 北京美康生物技术研究中心 | 检测乳腺癌易感基因突变的多重pcr试剂盒及其制备方法 |
US20110257889A1 (en) * | 2010-02-24 | 2011-10-20 | Pacific Biosciences Of California, Inc. | Sequence assembly and consensus sequence determination |
US20130073214A1 (en) * | 2011-09-20 | 2013-03-21 | Life Technologies Corporation | Systems and methods for identifying sequence variation |
CN102329876B (zh) * | 2011-10-14 | 2014-04-02 | 深圳华大基因科技有限公司 | 一种测定待检测样本中疾病相关核酸分子的核苷酸序列的方法 |
US9552458B2 (en) * | 2012-03-16 | 2017-01-24 | The Research Institute At Nationwide Children's Hospital | Comprehensive analysis pipeline for discovery of human genetic variation |
WO2014152990A1 (en) * | 2013-03-14 | 2014-09-25 | University Of Rochester | System and method for detecting population variation from nucleic acid sequencing data |
US9116866B2 (en) * | 2013-08-21 | 2015-08-25 | Seven Bridges Genomics Inc. | Methods and systems for detecting sequence variants |
CN104232761A (zh) * | 2014-08-27 | 2014-12-24 | 武汉凯吉盈科技有限公司 | 基因全片段快速测序方法 |
-
2016
- 2016-03-25 WO PCT/US2016/024319 patent/WO2016154584A1/en active Application Filing
- 2016-03-25 CN CN202310086286.9A patent/CN116042833A/zh active Pending
- 2016-03-25 MX MX2017012367A patent/MX2017012367A/es unknown
- 2016-03-25 EP EP16769805.9A patent/EP3274475B1/en active Active
- 2016-03-25 BR BR112017020363A patent/BR112017020363A2/pt active IP Right Grant
- 2016-03-25 US US15/560,611 patent/US20180051329A1/en active Pending
- 2016-03-25 CA CA2980327A patent/CA2980327A1/en active Pending
- 2016-03-25 EP EP24185655.8A patent/EP4425500A2/en active Pending
- 2016-03-25 CN CN201680030228.2A patent/CN107849612B/zh active Active
-
2017
- 2017-09-26 MX MX2022009242A patent/MX2022009242A/es unknown
-
2018
- 2018-07-31 HK HK18109881.3A patent/HK1250520A1/zh unknown
Also Published As
Publication number | Publication date |
---|---|
CN107849612B (zh) | 2023-04-14 |
EP3274475B1 (en) | 2024-07-31 |
WO2016154584A1 (en) | 2016-09-29 |
CN116042833A (zh) | 2023-05-02 |
EP3274475A1 (en) | 2018-01-31 |
CA2980327A1 (en) | 2016-09-29 |
EP3274475A4 (en) | 2018-12-05 |
CN107849612A (zh) | 2018-03-27 |
BR112017020363A2 (pt) | 2018-06-05 |
MX2022009242A (es) | 2022-08-18 |
HK1250520A1 (zh) | 2018-12-21 |
EP4425500A2 (en) | 2024-09-04 |
US20180051329A1 (en) | 2018-02-22 |
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