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Organizer: Fundación Progreso y Salud ... 

  • From reads to disease variants

    21 - 25 October 2019

    Granada, Spain

    Elixir node event
    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

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