Cell-level Mutational Signatures in Cancer
Open AccessAbstract of ThesisCell-level Mutational Signatures in Cancer Mutational signatures are the collection of operative mutational processes occurring in a cell. All cancer genomes carry somatic mutations, and these mutations can be caused by multiple mutational processes, each of which generates a characteristic signature unique to the mutation process. There is very infrequently a single mutagen or mutational event at play in a cancer cell, but rather there is an accumulation of damage in the nucleotide environment that is reflected in multiple identifiable signatures across a cell. While these signatures have been identified and studied largely at the genomic level, here we sought to utilize single-cell RNA sequencing (scRNA-seq) data where the alignments are split by cellular barcode before calling variants to study the composition of mutational signature profiles at the cell level. We highlight and utilize a novel methodology for uncovering single-cell exclusive single nucleotide variants (sceSNVs), and establish that the discovery of sceSNVs from individual cells can be applied to study mutations’ origin and evolution. We show that different cell types show different mutational signature compositions and highlight the differences in cellular heterogeneity across scRNA-seq samples, contributing to the identification and categorization of mutational signatures.
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Dillard_gwu_0075M_15987.pdf | 2022-10-04 | Open Access |
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Suplementary_File_1.pptx | 2022-10-04 | Open Access |
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