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 offered by the EMBL’s European Bioinformatics Institute covers the basics of germline and somatic variant calling as well as their annotation and visualisation. Attendees will learn about workflows for performing variant calling, explore relevant file formats, and discuss applications of variant calling 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 course is available in English only.