From reads to disease variants
Organizer: Fundación Progreso y Salud (FPS), Broad Institute and the Spanish National Bioinformatics Institute (INB/ELIXIR-ES)
Host institution: Fundación Progreso y Salud (FPS)
Start: Monday, 21 October 2019 @ 09:15
End: Friday, 25 October 2019 @ 13:30
Country: SpainTarget audience:
- mixed audience
- GATK newbies
- variant discovery newbies
- GATK experts
- GATK users
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.
- Workshops and courses
Keywords: Variant calling, Variant discovery, GATK, disease variant, priorization, genomics