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- Introduction
- Gene Ontology and biological networks
- Methods for exploring newly-annotated species in Ensembl Rapid Release
- Discovering biological information from mass spectrometry-based proteomics
- Methods in bioimage analysis
- Collection challenge
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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 with Tobias Rausch (Senior bioinformatician, EMBL), recorded on 30 April 2022, introduces the basics of germline and somatic variant calling as well as their annotation and visualisation. It provides an overview of workflows to perform variant calling, demonstrates relevant file formats and discusses some variant calling applications in rare diseases, cancer genomics and population genomics.
By the end of the webinar recording 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
After having exposed to methods used in general variant calling, you can further your knowledge in genomic variations by learning about rare variant associations in the next chapter.