Exploring Human Genetic Variation
The application system requires cookies, and the limited processing of your personal data in order to function. By applying to this course you are agreeing to this as outlined in our Privacy Notice and Terms of Use
Date:
Tuesday 18 - Wednesday 19 July 2017Venue:
European Bioinformatics Institute (EMBL-EBI) - Training Room 1 - Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United KingdomApplication opens:
Monday 24 April 2017Application deadline:
Friday 30 June 2017Participation:
First come, first servedContact:
Johanna LangrishRegistration fee:
£80.00Registration closed
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 | |