Course at EMBL-EBI

Exploring human genetic variation

Welcome to the new EMBL-EBI Training site. Please tell us what you think!

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 two-day workshop will data resources and bioinformatics tools available at EMBL-EBI and the Sanger Institute that will aid understanding of human genetic variation. Each day will focus on a particular topic, with the aim of helping you get more from your data and also to explore publicly-available data that can further support your research.

Who is this course for?

No prior experience of bioinformatics is required, but an interest in finding out more about variation resources and an undergraduate level understanding of biology would be of benefit. This workshop will focus specifically on human variation.

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 you have discovered in your research
Course content

During this course you will learn about:

  • EVA, Ensembl variation resources, VEP, IGSR and UniProt on day 1
  • GWAS catalog, LRG, EGA, DECIPHER and COSMIC on day 2


Piraveen Gopalasingam
Julia Foreman
Wellcome Sanger Institute, UK
Joannella Morales
Laura Harris
Simon Forbes
Astrid Gall
Baron Koylass
Jose Miguel Mut Lopez
Andrew Nightingale
Nidhi Bindal
Wellcome Sanger Institute, UK
Claire Rye
Wellcome Sanger Institute, UK


Day 1 – Tuesday 19th March 
Day 1 - Where can I find human variation data?
08:15 Coach collecting delegates from Cambridge rail station
09:00-09:15 Arrival, registration
09:15-09:30 Welcome and course introduction Piv Gopalasingam
09:30-10:15 Introduction to variation data Astrid Gall
10:15-11:00 IGSR Astrid Gall
11:00-11:15 Break  
11:15-12:45 European Variation Archive Baron Koylass & Jose Miguel Mut Lopez
12:45-13:30 Lunch  
13:30-15:00 Ensembl & Variation Effect Predictor Astrid Gall
15:00-15:15 Break  
15:15-17:00 UniProt Andrew Nightingale
17:15 Shuttle to Cambridge Station  
Day 2 – Wednesday 20th March
How do I interpret genetic variants?
08:15 Coach collecting delegates from Cambridge rail station  
09:00-10:45 GWAS Catalog Laura Harris
10:45-11:00 Break  
11:00-12:00 LRG - Stable reference sequences for reporting variants Joannella Morales
12:00-12:45 European Genome-Phenome Archive Baron Koylass and Piv Gopalasingam
12:45-13:30 Lunch  
13:30-15:00 DECIPHER - Mapping the Clinical Genome Julia Foreman and the DECIPHER Team
15:00-15:15 Break  
15:15-16:45 COSMIC - Catalogue of Somatic Mutations in Cancer Simon Forbes and the COSMIC Team
16:45-17:00 Wrap up and feedback Piv Gopalasingam
17:15 Shuttle to Cambridge Station  

Attendance at this workshop is allocated on a first come, first served basis.

The registration fee covers your lunch, refreshments and a shuttle between Cambridge Station and the Wellcome Genome Campus. Accommodation is not included and you will need to make your own arrangements.

Please note that registration closes two weeks prior to the course, so please register as soon as you can. Once you have registered and we have received payment we can provide a letter of support should you require a visa to travel to the UK. Applying for a visa can take several weeks, and it might not be possible to be granted a visa if you register just before the closing date. If you are unable to attend, then please notify us as quickly as possible so that we can offer your place to someone else.

Once you have registered please send Charlotte Pearton ( a picture of yourself and a Microsoft Word (.docx) document containing three short paragraphs with a biography, work history and description of your current research interests; each paragraph should be no more than 100 words.

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19 - 20 March 2019
European Bioinformatics Institute United Kingdom
Charlotte Pearton

  • Piraveen Gopalasingam

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