Compartición, análisis y almacenamiento de datos genómicos con RD-Connect GPAP y EGA
El Centro Nacional de Análisis Genómico (CNAG-CRG) y la European Genome-Phenome Archive (EGA) organizan un curso práctico sobre el uso de herramientas para compartir y analizar datos genómicos en el marco del proyecto VEIS - Valorización de EGA para la Industria y la Sociedad.
En el primer...
Scientific topics: Data integration and warehousing, Database management, Genomics
Resource type: Video
Compartición, análisis y almacenamiento de datos genómicos con RD-Connect GPAP y EGA
https://www.cnag.crg.eu/events/compartici%C3%B3n-an%C3%A1lisis-y-almacenamiento-de-datos-gen%C3%B3micos-con-rd-connect-gpap-y-ega
http://tess.elixir-uk.org/materials/comparticion-analisis-y-almacenamiento-de-datos-genomicos-con-rd-connect-gpap-y-ega
El Centro Nacional de Análisis Genómico (CNAG-CRG) y la European Genome-Phenome Archive (EGA) organizan un curso práctico sobre el uso de herramientas para compartir y analizar datos genómicos en el marco del proyecto VEIS - Valorización de EGA para la Industria y la Sociedad.
En el primer módulo del curso se presentará la plataforma RD-Connect GPAP que permite integrar, compartir y analizar datos genómicos y fenotípicos de manera segura entre los equipos clínicos y de investigación autorizados, facilitando el diagnóstico de Enfermedades Raras y la identificación de nuevas asociaciones gen-enfermedad. La interfaz gráfica de la plataforma y sus numerosos recursos conectados permiten analizar e interpretar datos de manera eficaz e intuitiva sin necesidad de tener formación en Bioinformática. La RD-Connect GPAP, coordinada y desarrollada por el CNAG-CRG y reconocida por el International Rare Disease Consortium (IRDiRC), hospeda actualmente datos pseudonimizados de más de 20.000 pacientes y familiares y ha contribuido al diagnóstico de cientos de casos.
En el segundo módulo se seguirá la demostración de la plataforma RD-Connect GPAP para el análisis y reanálisis de datos de pacientes con enfermedades raras y se explicará cómo las herramientas ofrecidas por EGA hacen más fácil y segura la compartición y el almacenamiento de los datos.
El curso lo impartirán Gemma Bullich y Leslie Matalonga de la Unidad de Bionformática del CNAG-CRG y Teresa d'Altri y Babita Singh de EGA el 17 de diciembre de 10 a 14 h. La agenda del curso es la siguiente:
Parte 1. Módulo clínico (RD-Connect GPAP)
1.1 Introducción a la plataforma RD-Connect e importancia del uso de ontologías y estándares (HPO, ORDO, etc) para la integración de datos fenotípicos en el análisis (gen)ómico
1.2 Hands-on: Phenostore: entrada de datos fenotípicos de pacientes con enfermedades raras para el posterior análisis de datos genómicos
Parte 2. Módulo genético (EGA y RD-Connect GPAP)
2.1 Secuenciación y análisis de datos genómicos
2.2 European Genome-Phenome Archive y compartición de datos (en inglés)
2.3 Hands-on: Resolución de casos de pacientes con enfermedades raras entrados en parte 1 con RD-Connect GPAP
Parte 3. Discusión y preguntas
Data integration and warehousing
Database management
Genomics
Clinical Scientists
Making cohort data FAIR
CINECA webinar about how to make data from cohort studies FAIR
Scientific topics: Data management, Data integration and warehousing
Keywords: FAIR data, Cohort data, Ontologies, Standards
Resource type: Video
Making cohort data FAIR
https://www.youtube.com/watch?v=NWeffXwRa-U
http://tess.elixir-uk.org/materials/making-cohort-data-fair
CINECA webinar about how to make data from cohort studies FAIR
Will Hsiao
Marta Lloret Llinares
Data management
Data integration and warehousing
FAIR data, Cohort data, Ontologies, Standards
Annotating data using next generation biobanking ontology (NGBO)
This video explains why we need data standardization and how to annotate data using next generation biobanking ontology (NGBO).
Scientific topics: Ontology and terminology, Data integration and warehousing
Keywords: Standards, Ontologies, Data Integration, data harmonization, Standardised vocabulary
Resource type: Video
Annotating data using next generation biobanking ontology (NGBO)
https://www.youtube.com/watch?v=jGatQTTp-Dg
http://tess.elixir-uk.org/materials/annotating-data-using-next-generation-biobanking-ontology-ngbo
This video explains why we need data standardization and how to annotate data using next generation biobanking ontology (NGBO).
Dalia Alghamdi
Ontology and terminology
Data integration and warehousing
Standards, Ontologies, Data Integration, data harmonization, Standardised vocabulary
Applying data standards to the harmonization of COVID-19 datasets from different sources
This video describes how public health genomics has played a key role in international responses to the COVID-19 pandemic, and how data standards are being used to harmonize data across jurisdictions for Canadian COVID-19 surveillance and outbreak investigations.
Scientific topics: Data integration and warehousing
Keywords: Data integration, Standards, Standardised vocabulary, data harmonization, Ontologies
Resource type: Video
Applying data standards to the harmonization of COVID-19 datasets from different sources
https://www.youtube.com/watch?v=Z20ZOrtQ7Cs
http://tess.elixir-uk.org/materials/applying-data-standards-to-the-harmonization-of-covid-19-datasets-from-different-sources
This video describes how public health genomics has played a key role in international responses to the COVID-19 pandemic, and how data standards are being used to harmonize data across jurisdictions for Canadian COVID-19 surveillance and outbreak investigations.
Emma Griffiths
Data integration and warehousing
Data integration, Standards, Standardised vocabulary, data harmonization, Ontologies
Anyone interested in data standardization and/or the ontology approach (i.e. public, end users).
Useful ontologies for harmonizing cohort data
This video describes a community of practice for interoperable ontology building called the OBO Foundry, and highlights a number of well curated and maintained ontologies that are useful for annotating cohort data.
Scientific topics: Ontology and terminology, Data management, Data integration and warehousing
Keywords: Ontologies, Cohort data, data annotation
Resource type: Video
Useful ontologies for harmonizing cohort data
https://www.youtube.com/watch?v=7m6xtJEh1WE
http://tess.elixir-uk.org/materials/useful-ontologies-for-harmonizing-cohort-data
This video describes a community of practice for interoperable ontology building called the OBO Foundry, and highlights a number of well curated and maintained ontologies that are useful for annotating cohort data.
Emma Griffiths
Ontology and terminology
Data management
Data integration and warehousing
Ontologies, Cohort data, data annotation
Anyone interested in data standardization and/or the ontology approach (i.e. public, end users).
Annotating data using ontologies
This video highlights examples of tools and ontologies which can be used for annotating health data, and how ontologies help to support data ecosystems.
Scientific topics: Ontology and terminology, Data integration and warehousing, Data management
Keywords: Ontologies, Annotation, Data integration
Resource type: Video
Annotating data using ontologies
https://www.youtube.com/watch?v=lFqpuZfv_8o
http://tess.elixir-uk.org/materials/annotating-data-using-ontologies
This video highlights examples of tools and ontologies which can be used for annotating health data, and how ontologies help to support data ecosystems.
Emma Griffiths
Ontology and terminology
Data integration and warehousing
Data management
Ontologies, Annotation, Data integration
Solutions for overcoming cohort data integration challenges using ontology: an introduction
Ontologies are collections of well-defined, hierarchical, controlled vocabulary, linked by logical relationships. This video introduces the concept and benefits of implementing ontologies for solving data integration issues when data is generated by different research groups.
Scientific topics: Data management, Data integration and warehousing, Ontology and terminology
Keywords: Ontologies, Data integration, Annotation
Resource type: Video
Solutions for overcoming cohort data integration challenges using ontology: an introduction
https://www.youtube.com/watch?v=mk7LfUIQe6U
http://tess.elixir-uk.org/materials/solutions-for-overcoming-cohort-data-integration-challenges-using-ontology-an-introduction
Ontologies are collections of well-defined, hierarchical, controlled vocabulary, linked by logical relationships. This video introduces the concept and benefits of implementing ontologies for solving data integration issues when data is generated by different research groups.
Emma Griffiths
Data management
Data integration and warehousing
Ontology and terminology
Ontologies, Data integration, Annotation
OpenRiskNet: Ontology Walkthrough and Workshop
Workshop of 1.5h where the eNanoMapper ontology and a few uses are discussed. The exercises walk the audience trough the principles, uses, and demonstrates how they can actively work with the ontology.
Scientific topics: Ontology and terminology, Toxicology
Resource type: Tutorial
OpenRiskNet: Ontology Walkthrough and Workshop
https://openrisknet.github.io/workshop/OntologyWorkshop/
http://tess.elixir-uk.org/materials/openrisknet-ontology-walkthrough-and-workshop
Workshop of 1.5h where the eNanoMapper ontology and a few uses are discussed. The exercises walk the audience trough the principles, uses, and demonstrates how they can actively work with the ontology.
Egon Willighagen
Ontology and terminology
Toxicology
Biologists
bioinformaticians
Chemists
Adding nanomaterial data
This tutorial describes how nanomaterial data can be added to an eNanoMapper server using a RDF format.
Scientific topics: Database management, Toxicology
Keywords: nanotoxicology, enanomapper, resource description framework, ontology
Resource type: Tutorial
Adding nanomaterial data
https://nanocommons.github.io/tutorials/enteringData/
http://tess.elixir-uk.org/materials/adding-nanomaterial-data
This tutorial describes how nanomaterial data can be added to an eNanoMapper server using a RDF format.
Egon Willighagen
Database management
Toxicology
nanotoxicology, enanomapper, resource description framework, ontology
programmers
data entering