Register event
2 events found

Target audience: GATK newbies  or healthcare professionals 

  • International Summer School on Rare Disease Registries and FAIRification of Data

    23 - 27 September 2019

    Roma, Italy

    International Summer School on Rare Disease Registries and FAIRification of Data https://tess.elixir-europe.org/events/international-summer-school-on-rare-disease-registries-and-fairification-of-data Registries are key resources in order to increase timely and accurate diagnosis, improve patients management, tailor treatments, facilitate clinical trials, support healthcare planning and speed up research. This course is composed of two training modules: The first module “Rare Disease Registries” starts on September 23 till September 25, 2019, during these three days participants will learn (a) what resources are needed for the establishment / maintenance of a high quality registry (b) the features of successful strategies to ensure (i) long-time sustainability of the registry, (ii) quality, (iii) legal and ethical issues in compliance with the EU General Data Protection Regulation and (iv) FAIR principles The second module “FAIRification of data”, starts on September 26 till September 27, 2019 during these two days participants, working with IT-trainers, will make use case data FAIR. The potential of a FAIR registry, as the basis for cross resource questions, will be demonstrated by executing a query across the use cases that become FAIR. In this part a time slot will be allocated to discuss FAIR data management and FAIR project planning. 2019-09-23 09:00:00 UTC 2019-09-27 18:00:00 UTC European Joint Programme on Rare Diseases (EJP-RD), Istituto Superiore di Sanità of Italy Via Giano della Bella, 34, Roma, Italy Via Giano della Bella, 34 Roma Città Metropolitana di Roma Italy Rare diseases Istituto Superiore di Sanità claudio.carta@iss.it [] Cliniciansmedical specialistsregistry curatorsdatabase managershealthcare professionals rare disease patients representatives workshops_and_courses first_come_first_servedregistration_of_interest Rare DiseasesRegistryethical issues
  • From reads to disease variants

    21 - 25 October 2019

    Granada, Spain

    Elixir node event
    From reads to disease variants https://tess.elixir-europe.org/events/from-reads-to-disease-variants Massive sequencing is becoming mainstream in many fields of biomedicine, including the clinical practice. However, the management of sequencing raw data to transform them into valuable biological information on variants and its further interpretation is still a complex task that requires of intensive computing and trained personnel. This course covers all the steps from the raw sequencing data, produced by the sequencers, to the obtention of lists of variants using the popular GATK software. The course is followed by a tutorial on the IVA, a powerful and intuitive web interface for the interactive prioritization and detection of disease variants. GATK workshops are designed to provide a comprehensive onboarding experience to new users, as well as access to more advanced understanding for users who are already familiar with the toolkit. 2019-10-21 09:15:00 UTC 2019-10-25 13:30:00 UTC Fundación Progreso y Salud (FPS), Broad Institute and the Spanish National Bioinformatics Institute (INB/ELIXIR-ES) Granada, Spain Granada Spain Fundación Progreso y Salud (FPS) [] mixed audienceGATK newbiesvariant discovery newbiesGATK expertsGATK users workshops_and_courses [] Variant callingVariant discoveryGATKdisease variantpriorizationgenomics
Note, this map only displays events that have geolocation information in TeSS.
For the complete list of events in TeSS, click the grid tab.