Exploring Human Genetic Variation


 Tuesday 10 Wednesday 11 July 2018


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

Application deadline: 

Wednesday May 02 2018


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?

We present a 2 day workshop 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 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.

Day 1:  What is genetic variation? Sources of variation data and how can I explore variants in Genes and proteins?

Day 2:  Linking variation with phenotypes

Syllabus, tools and resources

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


(Variation introduction), EVA, IGSR, VEP, Ensembl, UniProt, GWAS catalog, DECIPHER, COSMIC


At the end of these workshops 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



Time Topic Trainer  
Day 1 - 10th July 2018 - What is Genetic Variation? Sources of variation data and how can I explore variants in Genes and proteins?
08:15 Coach collecting delegates from Cambridge rail station    
09:00 - 09:15 Registration    
09:15 - 09:30 Welcome and course introduction Piv Gopalasingam  
09:30 - 10:15 Introduction to variation data Ben Moore/Ensembl  
10:15 - 11:00 IGSR Ben Moore/Ensembl  
11:00 - 11:15 Tea/coffee break    
11:15 - 12:45 Ensembl and VEP Ben Moore/Ensembl  
12:45 - 13:30 Lunch    

13:30 - 15:00

EVA Hannah McLaren / Andres Silva  
15:00 - 15:15 Tea/coffee break    
15:15 - 17:00 UniProt Andrew Nightingale/Sangya Pundir  
17:15 Return coach to Cambridge rail station    
Day 2 - 11th July 2018: Linking variation with phenotypes
09:00 - 10:45 GWAS Catalog Laura Harris  
10:45 - 11:00 Tea/coffee break    
11:00 - 12:00 LRG - Stable reference sequences for reporting variants Joannella Morales  
12:00 - 12:45 EGA Giselle Kerry  
12:45 - 13:30 Lunch    
13:30 - 15:00 DECIPHER - Mapping the Clinical Genome Julia Foreman and the DECIPHER team  
15:00 - 15:15 Tea/coffee break    
15:15 - 16:45 COSMIC - Catalogue of Somatic Mutations in Cancer The COSMIC team  
16:45 - 17:00 Wrap up and feedback Piv Gopalasingam  
17:15 Return coach to Cambridge rail station