Mutational signatures: emerging concepts, caveats and clinical applications
Whole-genome sequencing has brought the cancer genomics community into new territory.
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Thanks to the sheer power provided by the thousands of mutations present in each patient's …
Portrait of a cancer: mutational signature analyses for cancer diagnostics
Background In the past decade, systematic and comprehensive analyses of cancer
genomes have identified cancer driver genes and revealed unprecedented insight into the …
genomes have identified cancer driver genes and revealed unprecedented insight into the …
The repertoire of mutational signatures in human cancer
Somatic mutations in cancer genomes are caused by multiple mutational processes, each of
which generates a characteristic mutational signature. Here, as part of the Pan-Cancer …
which generates a characteristic mutational signature. Here, as part of the Pan-Cancer …
MutationalPatterns: comprehensive genome-wide analysis of mutational processes
F Blokzijl, R Janssen, R Van Boxtel, E Cuppen - Genome medicine, 2018 - Springer
Background Base substitution catalogues represent historical records of mutational
processes that have been active in a cell. Such processes can be distinguished by various …
processes that have been active in a cell. Such processes can be distinguished by various …
Uncovering novel mutational signatures by de novo extraction with SigProfilerExtractor
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …
present SigProfilerExtractor, an automated tool for de novo extraction of mutational …
Aristolochic acids and their derivatives are widely implicated in liver cancers in Taiwan and throughout Asia
Many traditional pharmacopeias include Aristolochia and related plants, which contain
nephrotoxins and mutagens in the form of aristolochic acids and similar compounds …
nephrotoxins and mutagens in the form of aristolochic acids and similar compounds …
MutationalPatterns: the one stop shop for the analysis of mutational processes
F Manders, AM Brandsma, J de Kanter, M Verheul… - BMC genomics, 2022 - Springer
Background The collective of somatic mutations in a genome represents a record of
mutational processes that have been operative in a cell. These processes can be …
mutational processes that have been operative in a cell. These processes can be …
SigProfilerMatrixGenerator: a tool for visualizing and exploring patterns of small mutational events
Background Cancer genomes are peppered with somatic mutations imprinted by different
mutational processes. The mutational pattern of a cancer genome can be used to identify …
mutational processes. The mutational pattern of a cancer genome can be used to identify …
The repertoire of mutational signatures in human cancer
Somatic mutations in cancer genomes are caused by multiple mutational processes each of
which generates a characteristic mutational signature. Using 84,729,690 somatic mutations …
which generates a characteristic mutational signature. Using 84,729,690 somatic mutations …
Genomic landscape of TCRαβ and TCRγδ T-large granular lymphocyte leukemia
Large granular lymphocyte (LGL) leukemia comprises a group of rare lymphoproliferative
disorders whose molecular landscape is incompletely defined. We leveraged paired whole …
disorders whose molecular landscape is incompletely defined. We leveraged paired whole …