Illumina / strelka

Strelka2 germline and somatic small variant caller
GNU General Public License v3.0
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Somatic variant calling in RNA? #197

Open alexandruioanvoda opened 3 years ago

alexandruioanvoda commented 3 years ago

Really cool software! Thanks for developing & maintaining it!

The guideline makes it clear strelka2 can be used for germline variant calling on RNA-seq data with the --rna flag. However, is it going to work fine with the somatic variant workflow too (e.g. tumor + normal pairs of RNAseq)?

RNA-Seq
The germline workflow can be configured with the --rna flag. 
This will provide experimental settings for RNA-Seq variant calling. 
At present this flag disables all high depth filters which are designed 
to exclude pericentromeric reference compressions in the WGS case 
but cannot be applied correctly to RNA-Seq analysis. 
In addition the expected allele frequency of heterozygous variants 
is expanded to account for allele specific expression and a custom 
RNA-Seq empirical scoring model is used.

https://github.com/Illumina/strelka/blob/v2.9.x/docs/userGuide/README.md#rna-seq