IKIM-Essen / uncovar

Transparent and robust SARS-CoV-2 variant calling and lineage assignment with comprehensive reporting.
https://ikim-essen.github.io/uncovar
BSD 2-Clause "Simplified" License
20 stars 7 forks source link

fix: improved clonality event definition, usage of major subclone for assembly polishing; upgrade to varlociraptor 6.0 #585

Closed johanneskoester closed 1 year ago

johanneskoester commented 1 year ago

Important: Before, we used only clonal variants (VAF=100%) for assembly polishing. This PR changes this behavior to also use major subclonal variants to polish the assembly (VAF>=50%). This is open for discussion. My idea is: the assembly should represent the major subclone in the sample (if there are multiple ones). If we only use clonal variants like before, the assembly could contain individual loci where the majority of the reads disagree with the assembly. This is not what we would want I think, since it also hampers the predictions of pangolin.

Related Issue

Checklist