Fig. 3: Mutation detection in AML by eMut. | Communications Biology

Fig. 3: Mutation detection in AML by eMut.

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

Fig. 3

a Heatmap showing the somatic mutations and fusion genes supported by diagnostic genetic testing (cytogenetic and molecular genetic) (blue) or bulk RNA-seq data (yellow), both (red). b The distribution of somatic non-coding mutations across patients identified by eMut. AML8 was excluded from the analysis due to the absence of detectable somatic mutations. c Correlation between the percentage of blast cells with the fraction of mutated cells with somatic mutations (Pearson’s correlation test, alternative = “greater”). d The genomic localization of putative somatic mutations annotated using RefSeq hg38. e Comparison between the mutational spectra of the mutations detected in AML samples using scATAC-seq (mutations detected by Monopogen), ATAC-seq (mutations detected by GATK), WES-seq (data from TCGA), and WGS-seq (data from ICGC). f Cosine similarity values between mutational spectra with COSMIC mutational signatures (myeloid, SBS5, and SBS6) are shown in the bar plot.

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