hands-on tutorial
Hands-on for 'Identification of somatic and germline variants from tumor and normal sample pairs' tutorial
The questions this addresses are:
- What are the specific challenges in somatic variant calling that set it apart from regular diploid variant calling?
- How can you call variants and classify them according to their presence/absence in/from tumor and normal tissue of the same individual?
- How can you annotate variants and affected genes with prior knowledge from human genetic and cancer-specific databases to generate clinically relevant reports?
The objectives are:
- Call variants and their somatic status from whole-exome sequencing data
- Annotate variants with a wealth of human genetic and cancer-specific information extracted from public databases
- Add gene-level annotations and generate reports of annotated somatic and germline variants, loss-of-heterozygosity (LOH) events, and affected genes, ready for interpretation by clinicians
Licence: Creative Commons Attribution 4.0 International
Keywords: variant-analysis
Target audience: Students
Resource type: hands-on tutorial
Contributors: Wolfgang Maier
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