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A mutation-level covariate model for mutational signatures
Mutational processes and their exposures in particular genomes are key to our understanding of how these genomes are shaped. However, current analyses assume that these processes are uniformly active across the genome without accounting for potential covariates such as strand or genomic region that could impact such activities.
Itay Kahane +2 more
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Background Studies of cancer mutations have typically focused on identifying cancer driving mutations that confer growth advantage to cancer cells. However, cancer genomes accumulate a large number of passenger somatic mutations resulting from various ...
Yoo-Ah Kim +9 more
doaj +1 more source
There are two frameworks for characterizing mutational signatures which are commonly used to describe the nucleotide patterns that arise from mutational processes.
Zhi Yang +3 more
doaj +1 more source
Adenosquamous carcinoma (ASC) of the lung is a relatively rare tumor with strong aggressiveness and poor prognosis. The analysis of mutational signatures is becoming routine in cancer genomics and has implications for pathogenesis, classification, and ...
Hongbiao Wang +10 more
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Background Mutational signatures are somatic mutation patterns enriching operational mutational processes, which can provide abundant information about the mechanism of cancer.
Zhenzhang Li +3 more
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Trajectory and uniqueness of mutational signatures in yeast mutators [PDF]
Significance Deficiencies in genome maintenance genes result in increased mutagenesis and genome rearrangements that impact cell viability, species adaptation, and evolvability. The accumulation of somatic mutations is also a landmark of most tumor cells but it remains difficult to retrospectively determine their mechanistic ...
Loeillet, Sophie +6 more
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AbstractSequencing complete tumor genomes and exomes has sparked the cancer field's interest in mutation signatures for identifying the tumor's carcinogen. This review and meta‐analysis discusses signatures and their proper use. We first distinguish between a mutagen's canonical mutations—deviations from a random distribution of base changes to create ...
openaire +2 more sources
Switching APOBEC mutation signatures [PDF]
Two studies report substantial temporal and spatial variability in mutagenic signatures caused by APOBEC cytidine deaminases in cancer.
openaire +2 more sources
Mutational landscape differences between young-onset and older-onset breast cancer patients
Background The incidence of breast cancer among young women (aged ≤40 years) has increased in North America and Europe. Fewer than 10% of cases among young women are attributable to inherited BRCA1 or BRCA2 mutations, suggesting an important role for ...
Nicole E. Mealey +6 more
doaj +1 more source
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 and understand the etiology of the underlying mutational processes. A plethora of
Erik N. Bergstrom +6 more
doaj +1 more source

