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
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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
SIGURD is implemented as an R package with associated pre-processing scripts. It is available on https://github.com/CostaLab/sigurd. Amazing collaborative work with M. Kalmer, S. Koschmieder, @brummendorf within the #CRU344 #genotyping #singlecell #MPN 5/5
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