Exploring Human Genetic Variation

Date:

 Tuesday 18 Wednesday 19 July 2017

Venue: 

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

Application opens: 

Monday April 24 2017

Application deadline: 

Friday June 30 2017

Participation: 

First come, first served

Contact: 

Johanna Langrish

Registration fee: 

£80.00

Registration closed

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Overview

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.

Audience

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

 

 Tools and resources:

 

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

 Day 2: EVA Clinical, GWAS catalog, DECIPHER, COSMIC

 

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

 

Outcomes

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

Programme

Time Topic Trainer
Day 1 - 18 July 2017 - What is Genetic Variation? Sources of variation data and how can I explore variants in Genes and proteins?
08:15 Coach collecting participants from Cambridge Train Station  
09:00 - 09:15 Registration  
09:15 - 09:30 Welcome and course introduction  
09:30 - 10:15 Introduction to variation data Ensembl
10:15 - 11:00 IGSR  
11:00 - 11:15 Tea/Coffee Break  
11:15 - 12:45 Ensembl and VEP Ensembl
12:45 - 13:30 Lunch   
13:30 - 15:00 EVA Gary Saunders
15:00 - 15:15 Tea/Coffee Break  
15:15 - 17:00 UniProt Andrew Nightingale
17:15 Coach back to Cambridge Train Station  
Day 2 - 19 July 2017 - Linking Variation with Phenotypes
08:15 Coach Collecting participants from Cambridge Train Station  
09:00 - 11:00 GWAS Catalog Joannella Morales
11:00 - 11:15 Tea/Coffee Break  
11:15 - 12:00 EVA Clinical Gary Saunders
12:00 - 12:45 EGA Jeff Almeida-King
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 and Cancer The COSMIC team 
16:45 - 17:00 Wrap up and feedback  
17:15 Coach back to Cambridge Train Station