GATK Workshop - October 21-24, 2019

Disease variant prioritization tutorial- October 25, 2019

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.



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Preparing for the workshop


GATK team (GATK workshop)

  • Allie Hajian
  • Geraldine Van der Auwera
  • Chris Kaluchis
  • Yvonne Blanco

Clinical Bioinformatics Area team (IVA tutorial)

  • Joaquín Dopazo
  • Javier Pérez-Florido
  • María Peña-Chilet
  • Francisco Manuel Ortuño-Guzmán
  • Rosario Carmona


The Spanish National Bioinformatics Institute (INB) is the ISCIII Bioinformatics platform. Its Coordination Node is supported by grant PT17/0009/0001, of the Acción Estratégica en Salud 2013-2016 of the Programa Estatal de Investigación Orientada a los Retos de la Sociedad, funded by the Instituto de Salud Carlos III (ISCIII) and European Regional Development Fund (ERDF)