Introduction to EGA and its Ecosystem of Tools

  • Categoría: Workshop
  • Lugar: Online
  • Organizador: EGA-CRG - European Genome-phenome Archive
  • Fechas: 19th September of 2022
  • Idioma: English
  • Más información e inscripciones

About the workshop

The European Genome-phenome Archive (EGA) is a resource for archiving of all types of potentially identifiable genetic, phenotypic, and clinical data resulting from biomedical research projects. Its mission is to foster hosted data reuse, enable reproducibility, and accelerate biomedical and translational research.

To promote the use and interaction with professionals in research and education, we invite you to attend our first online workshop on the EGA and its ecosystem of tools. The goal of this training would be to present EGA repositories and tools so that they can be incorporated into your research or teaching.

The free online workshop will take place on Monday September 19, 10:00 to 13:00 CEST.

Register in this online form (open until Wednesday, September 14)

Content

Part 1: The EGA and introduction to human data and sharing sensitive data

Part 2: Tools for exploring data: EGA has a number of tools in relation to GA4GH, such as Beacon or protocol htsget, which will be presented. There will also be introduction to other repositories for exploring sensitive human data, including GPAP: the RD-Connect Genome-Phenome Analysis Platform for diagnosis and gene discovery in rare disease research and DisGeNET: a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases.

This online course is aimed at teachers, professors and trainers interested in incorporating these concepts and tools in their curriculums.

During the workshop, live demonstrations of the tools will be performed. The organisers will also provide direct access to materials for learning and training.

Learning objectives

  • Identify EGA repository and tools
  • Incorporate EGA repository and tools into your research or teaching

Agenda

Time (CEST) Dur. Agenda Presenter
10:00-10:05 5' Overview of VEIS and this course TBD
10:05-10:25 20' Introduction to EGA and sharing sensitive data Aina Jené
Team lead helpdesk, EGA-CRG
10:25-11:10 45' Beacon Babita Singh
Post-doc, EGA-CRG
11:10-11:20 10' Break
11:20-12:05 45' GPAP: the RD-Connect Genome-Phenome Analysis Platform for diagnosis and gene discovery in rare disease research Sergi Beltran
Head of the Bioinformatics Unit, Centre Nacional d’Anàlisi Genòmica - Centre de Regulació Genòmica (CNAG-CRG)
12:05-12:15 10' Break
12:15-13:00 45' DisGeNET: a discovery platform designed to address a variety of questions concerning the genetic underpinning of human diseases Janet Piñero
Postdoc, Integrative Biomedical Informatics (IBI) group at the IMIM-UPF joint Research Programme on Biomedical Informatics (GRIB)