Do you want to understand more about genetic variation? Are you aware of the resources available for finding, viewing and exploring variant data? Are you trying to link variant data to phenotypes?

This three-day workshop will demonstrate resources and bioinformatics tools available at EMBL-EBI and the Wellcome Sanger Institute that will aid understanding of human genetic variation.

Participants will learn via a mix of lectures, trainer Q&A sessions, and hands-on training. Practical experience will be developed through group activities and trainer-led exercises. Live sessions will be delivered using Zoom with additional support and communication via Slack. 

This course will take place over three non-consecutive days: 16, 18, and 20 May 2022.

Selected participants will be sent materials prior to the course. These might include pre-recorded talks and required reading or online training that will be essential to fully understand the course.

Participants will need to be available between the hours of 09:00 - 17:30 BST each day of the course. Trainers will be available to assist, answer questions, and further explain the analysis during these times.

Who is this course for?

No prior experience of bioinformatics is required, but an interest in finding out more about genetic variation resources and an undergraduate level understanding of biology would be of benefit. Experience with command line usage would be very beneficial.

This workshop will focus specifically on human genetic variation.

We encourage the audience to go through our introductory online course on human genetic variation prior to attending the workshop.

What will I learn?

Learning outcomes

At the end of this workshop you should be able to:

• Access and explore a range of appropriate variation resources
• Use these resources to retrieve relevant variant information
• Apply the information that you have discovered to your research

Course content

This workshop will cover:

• European Variation Archive (EVA) 
• Ensembl variation resources, Variant Effect Predictor (VEP) 
• International Genome Sample Resource (IGSR)
• UniProt
• GWAS Catalog 
• Matched Annotation from the NCBI and EMBL-EBI (MANE)
• European Genome-Phenome Archive (EGA)
• DECIPHER 
• Catalog of Somatic Mutations in Cancer (COSMIC)

Trainers

Attendance at this course is allocated on a first come, first served basis. Please complete the online application form to register.

Places for this course have now been filled, but if you would like to be added to the waiting list, please contact Jane Reynolds by 11 March 2022.