Germline small variant calling

We use whole exome (WES) or whole genome sequencing (WGS) data from one or multiple samples from a model species to detect single nucleotide polymorphisms (SNPs) and small insertions and deletions. The variant calling typically uses a community-developed pipeline from nf-core (sarek). The resulting list of variants is first annotated and then filtered based on the predicted effect of the change and the frequency of the variant in the general population.

  • Documentation (download below)
  • Full list of variants (SNPs and indels) with annotations
  • List of protein-changing variants
  • List of variants that are both protein-changing and rare in the general population