Fig. 1
From: A general approach for detecting expressed mutations in AML cells using single cell RNA-sequencing
Workflow, coverage, and performance metrics for variant detection in single cells. a Cryopreserved bone marrow cells from AML patients underwent eWGS, bulk RNA-seq, and scRNA-seq. Somatic mutations were discovered using eWGS data, identified in individual cells using scRNA-seq data, and interpreted in the context of expression heterogeneity. b Fraction of unique transcripts (molecules) whose reads map to any given position up to 10 kbp away from the capture site in both the 5’ and 3’ kits. c Comparison of single-cell and bulk RNA-seq coverage data for specific genes of interest. d Relationship between RNA and eWGS VAF; dependence of Mutant Cell Fraction on eWGS VAF; dependence of Mutant Cell Detection Rate on bulk RNA VAF, and dependence of Mutant Cell Detection Rate on position of the mutation in the cDNA
