Methods in genomic variant calling

Genomic variant calling entails identifying single nucleotide polymorphisms, small insertions and deletion (InDels) and larger variants (structural variants and copy-number variants) from next generation sequencing data.

This webinar will cover the basics of germline and somatic variant calling as well as their annotation and visualisation. We will get to know workflows to perform variant calling, look at relevant file formats and discuss some variant calling applications in rare diseases, cancer genomics and population genomics.

Who is this course for?
This webinar is suitable for any researcher in life sciences with an interest in genomics studies. No prior knowledge of bioinformatics is required, but an undergraduate level knowledge of biology would be useful.

Outcomes
By the end of the webinar you will be able to:

- Describe the basic principles of variant calling
- Find how to call, annotate and visualise variants
- Identify relevant file formats (BCF/VCF)
- Discover differences between small variant calling and structural variant calling

This webinar was recorded on 30th March 2022.

Slides for this webinar are available at https://www.ebi.ac.uk/training/events...

For future webinars: https://www.ebi.ac.uk/training/webinars