Exploring Human Genetic Variation


 Tuesday 19 Wednesday 20 March 2019


European Bioinformatics Institute (EMBL-EBI) - Training Room 2 - Wellcome Genome Campus, Hinxton, Cambridge,  CB10 1SD, United Kingdom

Application opens: 

Monday 24 September 2018

Application deadline: 

Friday 01 March 2019


First come, first served


Charlotte Pearton

Registration fee: 


Registration closed

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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.


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.

Syllabus, tools and resources

Day 1: EVA, Ensembl variation resources, VEP, IGSR, UniProt



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



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