Analysis of High Throughput Sequencing Data
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Date:
Tuesday 23 - Friday 26 October 2018Venue:
European Bioinformatics Institute (EMBL-EBI) - Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SD, United KingdomApplication opens:
Monday 23 April 2018Application deadline:
Friday 20 July 2018Participation:
Open application with selectionContact:
Lucie SmithRegistration fee:
£490 - including food and accommodationRegistration closed
Overview
This course will familiarise participants with methodologies for bioinformatics analysis of next generation sequencing (NGS) data. The content will provide insights into how biological knowledge can be derived from genomics experiments and explain different approaches to analysing such data. Practical sessions will allow participants to process training datasets and apply appropriate statistical methods in their analyses.
There will be no opportunity to work with your own data during the course.
Audience
This course is aimed at PhD students and post-doctoral researchers who are using high-throughput sequencing technologies and bioinformatics methods in their research. The content is most applicable for those working with eukaryotic genomes, human genetics and in rare disease research.
Participants will require a basic knowledge of the Unix command line, the Ubuntu 16 operating system and the R statistical packages. We recommend these free tutorials:
- Basic introduction to the Unix environment:
- Introduction and exercises for Linux:
- Basic R concept tutorials:
Please note: participants without basic knowledge of these resources will have difficulty in completing the practical sessions.
Syllabus, tools and resources
During this course you will learn about:
- High-throughput sequencing technologies
- Quality control methods for cleaning raw read data
- Alignment of reads to a reference genome
- File format conversion and processing
- Tools for variant calling
- Methodologies for variant annotation
- Data resources for genomics data
Outcomes
After this course you should be able to:
- Know the advantages and limitations of high-throughput assays
- Assess the quality of genomic datasets
- Compare and apply appropriate short read aligners
- Perform variant calling analysis and variant annotation
- Locate relevant information from online data resource
Additional information
All participants are encouraged to bring a poster that will be displayed during the course outside the training room. Posters should include information on your current research interests and how the course relates to this work. All posters should:
- be A2 in size - 420mm x 594 mm
- be in a portrait orientation
- include your photograph and contact information
Catering is provided throughout the duration of the course. All participants will be accommodated at the Wellcome Genome Campus Conference Centre for three nights.
Programme
| Time | Topic | Trainer |
|---|---|---|
| Day 1 - Tuesday 23 October 2018 | ||
| 12:00-13:00 | Arrival, registration and lunch | |
| 13:00-14:00 | Welcome and introductions | Tom Hancocks |
| 14:00-14:30 | Introduction to EMBL-EBI data resources | Tom Hancocks |
| 14:30-15:30 | Introduction to Ensembl | Ben Moore |
| 15:30-16:00 | Break | |
| 16:00-17:30 | European Variation Archive | Baron Koylass & Andres Felipe Silva Valencia |
| 18:00 | End of day | |
| 18:30 | Check in to accommodation | Conference Centre Reception |
| 19:00 | Evening meal | Hinxton Hall Restaurant |
| Day 2 - Wednesday 24 October 2018 | ||
| 08:45 | Arrival | |
| 09:00-10:00 | NGS technologies and library preparation | Tom Hancocks |
| 10:00-10:30 | Break | |
| 10:30-12:30 | NGS data types and quality control | Chiara Batini |
| 12:30-13:30 | Lunch and posters | |
| 13:30-15:00 | Read mapping; SAM/BAM format | Chiara Batini |
| 15:00-15:30 | Break | |
| 15:30-17:30 | BAM refinement | Chiara Batini |
| 17:30-18:30 | Group activities | |
| 18:30 | End of day | |
| 19:00 | Evening meal | Hinxton Hall Restaurant |
| Day 3 - Thursday 25 October 2018 | ||
| 09:00-10:30 | BAM refinement and visualisation | Chiara Batini |
| 10:30-11:00 | Break | |
| 11:00-12:30 | BAM refinement and visualisation | Chiara Batini |
| 12:30-13:30 | Lunch and posters | |
| 13:30-15:30 | Variant calling of SNPs | Chiara Batini |
| 15:30-16:00 | Break | |
| 16:00-17:30 | Filtering variants | Chiara Batini |
| 17:30-18:30 | Group activities | |
| 18:30 | End of day | |
| 19:00 | Evening meal | Hinxton Hall Restaurant |
| Day 4 - Friday 26 October 2018 | ||
| 08:30 | Checkout of accommodation | Conference Centre Reception |
| 08:45 | Arrival | |
| 09:00-11:00 | Annotation of variants | Peter Causey-Freeman |
| 11:00-11:30 | Break | |
| 11:30-13:00 | Ensembl VEP | Ben Moore |
| 13:00-13:15 | Wrap-up and feedback | Tom Hancocks |
| 13:15-13:45 | Lunch | |
| 14:00 | Coach to Cambridge Station | |