Introduction to genome variation analysis using NGS Prerequisites
This course provides an introduction to the analysis of human genome sequence variation with next generation sequencing data (NGS), including:
- an introduction to genetic variation as well as data formats and analysis workflows commonly used in NGS data analysis;
- an overview of available analytical tools and discussion of their limitations; and
- hands-on experience with common computational workflows for analysing genome sequence variation using bioinformatics and computational genomics approaches.
A draft agenda can be found here
Please note that if you are not eligible for a University of Cambridge Raven account you will need to Book or register Interest by linking here.
- Graduate students, Postdocs and Staff members from the University of Cambridge, Affiliated Institutions and other external Institutions or individuals
- Further details regarding eligibility criteria are available here
- Basic experience of command line UNIX
- Sufficient UNIX experience might be obtained from one of the many UNIX tutorials available online.
Number of sessions: 2
# | Date | Time | Venue | Trainers | |
---|---|---|---|---|---|
1 | Wed 28 Sep 2016 09:30 - 17:30 | 09:30 - 17:30 | Bioinformatics Training Room, Craik-Marshall Building | map | Matthias Haimel, Dr Stefan Gräf |
2 | Thu 29 Sep 2016 09:30 - 17:30 | 09:30 - 17:30 | Bioinformatics Training Room, Craik-Marshall Building | map | Matthias Haimel, Dr Stefan Gräf |
After this course you should be able to:
- Recognize the challenges and pitfalls of the analysis of human genome sequence variation
- Recognize issues with the data
- Visualize alignments and variants using a genome viewer
- Evaluate the quality of your alignments and your variants
- Understand the standard file formats for representing variant data
- Apply filters to your list of variants
- Functionally annotate variants
During this course you will learn about:
- Introduction to genome variation
- Experimental design
- Genome sequence alignment
- Data quality assessment
- Variant calling
- Variant filtering, effect prediction and prioritisation
- Genome-wide association
Presentations, demonstrations and practicals
- Free for University of Cambridge students
- £ 50/day for all University of Cambridge staff, including postdocs, and participants from Affiliated Institutions. Please note that these charges are recovered by us at the Institutional level
- £ 50/day for all other academic participants from external Institutions and charitable organizations. These charges must be paid at registration
- £ 100/day for all Industry participants. These charges must be paid at registration
- Further details regarding the charging policy are available here
2
A number of times per year
Booking / availability