Exploring Genetic Variation


 Tuesday 21 Thursday 23 June 2016


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

Application opens: 

Monday February 22 2016

Application deadline: 

Friday June 10 2016


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?

New for 2016, we present a series of three one-day workshops to introduce you to data resources and tools developed by EMBL-EBI and the Sanger Institute that can help you better understand 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 publically-available data that can further support your research.

 Workshop topics

 Workshop 1 (21st June): What is genetic variation? An introduction to the field and to sources of variant data.

Workshop 2 (22nd June): How can I explore variants in genes and proteins?

Workshop 3 (23rd June): Exploring human genetic variation and phenotypes.



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. Days 1 and 2 are applicable to all participants with an interest in genetic variation whereas day 3 is focused specifically on human phenotype information.

Syllabus, tools and resources

Workshop 1: Introduction to Genetic Variation, EVA, International Genome Sample Resource (IGSR), Variant Effect Predictor (VEP).

Workshop 2: Ensembl, UniProt, International Mouse Phenotyping Consortium (IMPC).

Workshop 3: European Genome-phenome archive (EGA), Genome-Wide Association Studies (GWAS) Catalog, EVA (Clinical set), DECIPHER.


At the end of these workshops you should be able to: 

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