We build on MAEGATK for delineation of mitochondria derived clones. We observed an increase in clonality in MPN compared to HC, as supported by diversity measures. As before, we can functionally characterize clones with GSEA and enrichment analysis 4/5

We demonstrated SIGURD in scRNA-seq and JAK2V617F amplicon data from Myeloproliferative Neoplasms. Combined analysis with scRNA-seq allowed us to find an enrichment of JAK2V617F cells in late erythroid cells and an increase in heme metabolism 3/5

We are happy to present SIGURD, a framework for single cell level analysis of somatic and mitochondrial variants from scRNA-seq data. This end-to-end framework allows genotyping, QC, functional analysis and data integration academic.oup.com/bib/article/... 1/5

And we get no break ... Saturday morning at home and I found another low dimensional embbeding (HATCH-MAP) in the floor.