Fig. 2: Overview of eMut workflow to detect and interpret non-coding mutations at the single-cell level. | Communications Biology

Fig. 2: Overview of eMut workflow to detect and interpret non-coding mutations at the single-cell level.

From: Discovery of candidate functional non-coding mutations in acute myeloid leukemia using single-cell chromatin accessibility sequencing

Fig. 2

a Mutation detection and imputation. eMut splits the alignment file (BAM-formatted) according to cellular barcode and detects mutations in open regions of the genome by matching sequence information to the reference genome. For each mutation, the mutated cells were imputed by network propagation using the SCAVENGE approach. b Functional interpretation of mutations at different levels, including for cell-type enrichment, hypermutated CREs identification, impact on transcription factor binding event, and target gene expression.

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