MX2018011941A - Sistema de analisis de variantes geneticas y fenotipos y sus metodos de uso. - Google Patents
Sistema de analisis de variantes geneticas y fenotipos y sus metodos de uso.Info
- Publication number
- MX2018011941A MX2018011941A MX2018011941A MX2018011941A MX2018011941A MX 2018011941 A MX2018011941 A MX 2018011941A MX 2018011941 A MX2018011941 A MX 2018011941A MX 2018011941 A MX2018011941 A MX 2018011941A MX 2018011941 A MX2018011941 A MX 2018011941A
- Authority
- MX
- Mexico
- Prior art keywords
- methods
- genetic variant
- analysis system
- phenotype analysis
- phenotype
- Prior art date
Links
- 230000002068 genetic effect Effects 0.000 title abstract 2
Classifications
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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
-
- 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
- G16B20/10—Ploidy or copy number 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
- G16B20/00—ICT specially adapted for functional genomics or proteomics, e.g. genotype-phenotype associations
- G16B20/40—Population genetics; Linkage disequilibrium
-
- 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
- G16B45/00—ICT specially adapted for bioinformatics-related data visualisation, e.g. displaying of maps or networks
-
- 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
- G16B50/00—ICT programming tools or database systems specially adapted for bioinformatics
Landscapes
- Life Sciences & Earth Sciences (AREA)
- Physics & Mathematics (AREA)
- Health & Medical Sciences (AREA)
- Engineering & Computer Science (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Spectroscopy & Molecular Physics (AREA)
- Theoretical Computer Science (AREA)
- Bioinformatics & Computational Biology (AREA)
- Biotechnology (AREA)
- Evolutionary Biology (AREA)
- General Health & Medical Sciences (AREA)
- Medical Informatics (AREA)
- Biophysics (AREA)
- Genetics & Genomics (AREA)
- Chemical & Material Sciences (AREA)
- Analytical Chemistry (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Molecular Biology (AREA)
- Data Mining & Analysis (AREA)
- Ecology (AREA)
- Physiology (AREA)
- Bioethics (AREA)
- Databases & Information Systems (AREA)
- Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
- Information Retrieval, Db Structures And Fs Structures Therefor (AREA)
- Apparatus Associated With Microorganisms And Enzymes (AREA)
Abstract
Se describen métodos y sistemas para generar y analizar resultados de asociación entre variante genética y fenotipo.
Applications Claiming Priority (4)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| US201662314684P | 2016-03-29 | 2016-03-29 | |
| US201662362660P | 2016-07-15 | 2016-07-15 | |
| US201762467547P | 2017-03-06 | 2017-03-06 | |
| PCT/US2017/024810 WO2017172958A1 (en) | 2016-03-29 | 2017-03-29 | Genetic variant-phenotype analysis system and methods of use |
Publications (1)
| Publication Number | Publication Date |
|---|---|
| MX2018011941A true MX2018011941A (es) | 2019-03-28 |
Family
ID=58503755
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| MX2018011941A MX2018011941A (es) | 2016-03-29 | 2017-03-29 | Sistema de analisis de variantes geneticas y fenotipos y sus metodos de uso. |
Country Status (11)
| Country | Link |
|---|---|
| US (1) | US20170286594A1 (es) |
| EP (1) | EP3437001A1 (es) |
| JP (1) | JP2019515369A (es) |
| KR (1) | KR20180132727A (es) |
| CN (1) | CN109155149A (es) |
| AU (1) | AU2017242028A1 (es) |
| CA (1) | CA3018186C (es) |
| IL (1) | IL261882A (es) |
| MX (1) | MX2018011941A (es) |
| SG (1) | SG11201808261RA (es) |
| WO (1) | WO2017172958A1 (es) |
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| US10395759B2 (en) | 2015-05-18 | 2019-08-27 | Regeneron Pharmaceuticals, Inc. | Methods and systems for copy number variant detection |
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| US10289615B2 (en) * | 2017-05-15 | 2019-05-14 | OpenGov, Inc. | Natural language query resolution for high dimensionality data |
| CN107395704B (zh) * | 2017-07-13 | 2020-03-10 | 福州大学 | 一种Spark云计算平台下的结构物理参数辨识方法 |
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| US20210375407A1 (en) * | 2017-10-06 | 2021-12-02 | The Trustees Of Columbia University In The City Of New York | Diagnostic genomic predictions based on electronic health record data |
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| WO2019079166A1 (en) | 2017-10-16 | 2019-04-25 | Illumina, Inc. | TECHNIQUES BASED ON DEEP LEARNING LEARNING OF NEURONAL NETWORKS WITH DEEP CONVOLUTION |
| CN110021345B (zh) * | 2017-12-08 | 2021-02-02 | 北京哲源科技有限责任公司 | 基于spark平台的基因数据分析方法 |
| JP6862581B2 (ja) | 2018-01-15 | 2021-04-21 | イルミナ インコーポレイテッド | 深層学習ベースのバリアント分類器 |
| US11238955B2 (en) * | 2018-02-20 | 2022-02-01 | International Business Machines Corporation | Single sample genetic classification via tensor motifs |
| AU2018201712B2 (en) * | 2018-03-09 | 2024-02-22 | Pryzm Health IQ Pty Ltd | Visualising Clinical and Genetic Data |
| NL2020861B1 (en) * | 2018-04-12 | 2019-10-22 | Illumina Inc | Variant classifier based on deep neural networks |
| WO2019204632A1 (en) * | 2018-04-18 | 2019-10-24 | Rady Chidren's Hospital Research Center | Method and system for rapid genetic analysis |
| EP3803879A4 (en) * | 2018-06-06 | 2022-10-05 | Myriad Women's Health, Inc. | COPY NUMBER VARIANT CALLER |
| US12210904B2 (en) * | 2018-06-29 | 2025-01-28 | International Business Machines Corporation | Hybridized storage optimization for genomic workloads |
| EP3847652A1 (en) * | 2018-09-07 | 2021-07-14 | Regeneron Pharmaceuticals, Inc. | Methods and systems for pedigree enrichment and family-based analyses within pedigrees |
| US11116778B2 (en) | 2019-01-15 | 2021-09-14 | Empirico Inc. | Prodrugs of ALOX-15 inhibitors and methods of using the same |
| US20220145380A1 (en) * | 2019-01-31 | 2022-05-12 | Children's Medical Center Corporation | Cost-effective detection of low frequency genetic variation |
| US11216742B2 (en) | 2019-03-04 | 2022-01-04 | Iocurrents, Inc. | Data compression and communication using machine learning |
| EP3935638B1 (en) * | 2019-03-08 | 2025-11-05 | Nantomics, LLC | System and method for variant calling |
| EP3984037A1 (en) * | 2019-06-13 | 2022-04-20 | F. Hoffmann-La Roche AG | Systems and methods with improved user interface for interpreting and visualizing longitudinal data |
| US10671632B1 (en) | 2019-09-03 | 2020-06-02 | Cb Therapeutics, Inc. | Automated pipeline |
| WO2021046502A2 (en) * | 2019-09-08 | 2021-03-11 | The University Of Toledo | Kits and methods for testing for lung cancer risks |
| GB2587238A (en) * | 2019-09-20 | 2021-03-24 | Congenica Ltd | Kit and method of using kit |
| US11636951B2 (en) | 2019-10-02 | 2023-04-25 | Kpn Innovations, Llc. | Systems and methods for generating a genotypic causal model of a disease state |
| CN110610747B (zh) * | 2019-10-10 | 2023-08-18 | 桂林理工大学 | 一种基于深度学习的微型化学实验系统及方法 |
| CN112835491B (zh) * | 2019-11-22 | 2024-04-05 | 北京沃东天骏信息技术有限公司 | 信息处理方法、装置、电子设备及可读存储介质 |
| RU2754884C2 (ru) * | 2020-02-03 | 2021-09-08 | Атлас Биомед Груп Лимитед | Определение фенотипа на основе неполных генетических данных |
| US20230139964A1 (en) * | 2020-03-06 | 2023-05-04 | The Research Institute at Nationwide Childern's Hospital | Genome dashboard |
| CN111584011B (zh) * | 2020-04-10 | 2023-08-29 | 中国科学院计算技术研究所 | 面向基因比对的细粒度并行负载特征抽取分析方法及系统 |
| CA3182083A1 (en) * | 2020-06-12 | 2021-12-16 | Biming WU | Methods and systems for determination of gene similarity |
| CN113113081B (zh) * | 2020-08-31 | 2021-12-14 | 东莞博奥木华基因科技有限公司 | 基于CNV-seq测序数据检测多倍体和基因组纯合区域ROH的系统 |
| US11783919B2 (en) | 2020-10-09 | 2023-10-10 | 23Andme, Inc. | Formatting and storage of genetic markers |
| BE1028784B1 (fr) | 2020-11-10 | 2022-06-07 | Oncodna | Méthode de création d'un rapport mutationnel d'un materiel génétique d'un échantillon à l'aide d'une base de données pour la détection de caractéristiques phénotypiques des variants d'un gène de référence d'un génome de référence |
| IL301646A (en) * | 2020-11-19 | 2023-05-01 | Regeneron Pharma | Genotyping by sequencing |
| KR102304357B1 (ko) * | 2020-12-29 | 2021-09-23 | 주식회사 피터페터 | 주기적으로 업데이트 되는 유전자 변이 검사 결과 리포트 자동 발행 시스템 |
| CN112768085B (zh) * | 2021-01-11 | 2024-04-26 | 中国人民解放军军事科学院军事医学研究院 | 一种现场流行病学调查与综合态势可视化分析方法及系统 |
| CN113066529B (zh) * | 2021-03-26 | 2023-08-18 | 四川大学华西医院 | 基于全外显子数据的近亲家系鉴定方法、装置及设备 |
| US11922017B2 (en) | 2021-04-27 | 2024-03-05 | Apple Inc. | Compact genome data storage with random access |
| CN113345525B (zh) * | 2021-06-03 | 2022-08-09 | 谱天(天津)生物科技有限公司 | 一种用于高通量检测中减少协变量对检测结果影响的分析方法 |
| CN113921089B (zh) * | 2021-11-22 | 2022-04-08 | 北京安智因生物技术有限公司 | 一种用于确认ivd基因注释数据库更新频率的方法及系统 |
| EP4191595A1 (en) | 2021-12-03 | 2023-06-07 | Koninklijke Philips N.V. | Assessing quality of genomic regions studied for inclusion in standardized clinical formats |
| CN114912086B (zh) * | 2022-03-29 | 2024-08-30 | 超音速人工智能科技股份有限公司 | 一种软件权限管理分配方法及系统 |
| CN114496076B (zh) * | 2022-04-01 | 2022-07-05 | 微岩医学科技(北京)有限公司 | 一种基因组遗传分层联合分析方法及系统 |
| KR102470337B1 (ko) * | 2022-05-18 | 2022-11-25 | 주식회사 쓰리빌리언 | 변이 접합성 판별 시스템 |
| CN114898801A (zh) * | 2022-06-21 | 2022-08-12 | 中国农业科学院农业基因组研究所 | 群体单倍型可视化分析方法及系统 |
| WO2024006702A1 (en) * | 2022-06-27 | 2024-01-04 | Foundation Medicine, Inc. | Methods and systems for predicting genotypic calls from whole-slide images |
| WO2024064679A1 (en) * | 2022-09-20 | 2024-03-28 | Foundation Medicine, Inc. | Methods and systems for functional status assignment of genomic variants |
| CN116072214B (zh) | 2023-03-06 | 2023-07-11 | 之江实验室 | 基于基因显著性增强的表型智能预测、训练方法及装置 |
| CN116580773A (zh) * | 2023-04-10 | 2023-08-11 | 之江实验室 | 基于集成学习的育种跨代表型预测方法与系统、电子设备 |
| CN116775241B (zh) * | 2023-05-24 | 2025-03-11 | 北京海致科技集团有限公司 | 满负荷场景下基于图数据血缘的融合调度方法、装置 |
| KR102811624B1 (ko) | 2024-01-18 | 2025-05-26 | 주식회사 스탠다임 | 유전자 변이로부터 인코딩된 대사 플럭스를 바탕으로 환자의 표현형을 예측하는 방법 |
| CN117746989B (zh) * | 2024-02-20 | 2024-05-10 | 北京贝瑞和康生物技术有限公司 | 变异描述信息的处理方法、装置及电子设备 |
| CN118053537B (zh) * | 2024-03-04 | 2024-08-06 | 中国医学科学院阜外医院 | 一种心原性猝死疾病遗传变异解读报告系统及应用 |
| CN119560005A (zh) * | 2024-11-04 | 2025-03-04 | 中国水稻研究所 | 一种基于混合专家算法的作物表型预测方法及相关装置 |
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| ZA200903761B (en) * | 2006-11-30 | 2010-08-25 | Navigenics Inc | Genetic analysis systems and methods |
| US8140270B2 (en) * | 2007-03-22 | 2012-03-20 | National Center For Genome Resources | Methods and systems for medical sequencing analysis |
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| AU2008304205B8 (en) * | 2007-09-26 | 2014-08-28 | Navigenics, Inc. | Methods and systems for genomic analysis using ancestral data |
| JP5718221B2 (ja) * | 2008-05-30 | 2015-05-13 | マサチューセッツ インスティテュート オブ テクノロジー | 細胞の空間的分離およびスクリーニングのための組成物および方法 |
| EP2480690A2 (en) * | 2009-09-23 | 2012-08-01 | Existence Genetics LLC | Genetic analysis |
| CN102695512B (zh) * | 2009-10-19 | 2017-05-10 | 罗斯塔库奥股份公司 | 用于药物基因组学治疗心血管病症的方法和系统 |
| US20150370959A9 (en) * | 2011-04-13 | 2015-12-24 | The Board Of Trustees Of The Leland Stanford Junior University | Phased Whole Genome Genetic Risk In A Family Quartet |
| EP3276517B1 (en) * | 2011-10-31 | 2019-03-27 | The Scripps Research Institute | Systems and methods for genomic annotation and distributed variant interpretation |
| US20140359422A1 (en) * | 2011-11-07 | 2014-12-04 | Ingenuity Systems, Inc. | Methods and Systems for Identification of Causal Genomic Variants |
| EP3243937A1 (en) * | 2012-07-17 | 2017-11-15 | Counsyl, Inc. | System and methods for detecting genetic variation |
| EP2923292B1 (en) * | 2012-11-26 | 2022-04-13 | Koninklijke Philips N.V. | Diagnostic genetic analysis using variant-disease association with patient-specific relevance assessment |
| US20150356243A1 (en) * | 2013-01-11 | 2015-12-10 | Oslo Universitetssykehus Hf | Systems and methods for identifying polymorphisms |
| US20140278133A1 (en) * | 2013-03-15 | 2014-09-18 | Advanced Throughput, Inc. | Systems and methods for disease associated human genomic variant analysis and reporting |
| WO2016025818A1 (en) * | 2014-08-15 | 2016-02-18 | Good Start Genetics, Inc. | Systems and methods for genetic analysis |
| CN105404793B (zh) * | 2015-12-07 | 2018-05-11 | 浙江大学 | 基于概率框架和重测序技术快速发现表型相关基因的方法 |
-
2017
- 2017-03-29 CN CN201780021230.8A patent/CN109155149A/zh active Pending
- 2017-03-29 WO PCT/US2017/024810 patent/WO2017172958A1/en not_active Ceased
- 2017-03-29 US US15/473,302 patent/US20170286594A1/en not_active Abandoned
- 2017-03-29 MX MX2018011941A patent/MX2018011941A/es unknown
- 2017-03-29 SG SG11201808261RA patent/SG11201808261RA/en unknown
- 2017-03-29 EP EP17716402.7A patent/EP3437001A1/en active Pending
- 2017-03-29 JP JP2018551244A patent/JP2019515369A/ja active Pending
- 2017-03-29 CA CA3018186A patent/CA3018186C/en active Active
- 2017-03-29 AU AU2017242028A patent/AU2017242028A1/en not_active Abandoned
- 2017-03-29 KR KR1020187030806A patent/KR20180132727A/ko not_active Withdrawn
-
2018
- 2018-09-20 IL IL261882A patent/IL261882A/en unknown
Also Published As
| Publication number | Publication date |
|---|---|
| CA3018186A1 (en) | 2017-10-05 |
| US20170286594A1 (en) | 2017-10-05 |
| EP3437001A1 (en) | 2019-02-06 |
| KR20180132727A (ko) | 2018-12-12 |
| JP2019515369A (ja) | 2019-06-06 |
| IL261882A (en) | 2018-10-31 |
| SG11201808261RA (en) | 2018-10-30 |
| AU2017242028A1 (en) | 2018-09-06 |
| CA3018186C (en) | 2023-06-13 |
| CN109155149A (zh) | 2019-01-04 |
| WO2017172958A1 (en) | 2017-10-05 |
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