Results 1 to 10 of about 39,628 (215)
Diffsig: Associating Risk Factors with Mutational Signatures. [PDF]
Cancer Epidemiol Biomarkers Prev, 2023 Abstract Background: Somatic mutational signatures elucidate molecular vulnerabilities to therapy, and therefore detecting signatures and classifying tumors with respect to signatures has clinical value.
Park JE +7 more
europepmc +4 more sources
Topography of mutational signatures in human cancer. [PDF]
Cell Rep, 2023 SUMMARYThe somatic mutations found in a cancer genome are imprinted by different mutational processes. Each process exhibits a characteristic mutational signature, which can be affected by the genome architecture. However, the interplay between mutational signatures and topographical genomic features has not been extensively explored.
Otlu B +6 more
europepmc +4 more sources
Evaluating topography of mutational signatures with SigProfilerTopography. [PDF]
Genome BiolAbstract The mutations found in a cancer genome are shaped by diverse processes, each displaying a characteristic mutational signature that may be influenced by the genome’s architecture. While prior analyses have evaluated the effect of topographical genomic features on mutational signatures, there has been no computational tool that
Otlu B, Alexandrov LB.
europepmc +6 more sources
SomaticSiMu: a mutational signature simulator [PDF]
Bioinformatics, 2021 Abstract Summary SomaticSiMu is an in silico simulator of single and double base substitutions, and single base insertions and deletions in an input genomic sequence to mimic mutational signatures.
David Chen +6 more
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Mutational Signatures: From Methods to Mechanisms [PDF]
Annual Review of Biomedical Data Science, 2021 Mutations are the driving force of evolution, yet they underlie many diseases, in particular, cancer. They are thought to arise from a combination of stochastic errors in DNA processing, naturally occurring DNA damage (e.g., the spontaneous deamination of methylated CpG sites), replication errors, and dysregulation of DNA repair mechanisms.
Yoo-Ah, Kim +5 more
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Regional mutational signature activities in cancer genomes [PDF]
PLOS Computational Biology, 2022 Cancer genomes harbor a catalog of somatic mutations. The type and genomic context of these mutations depend on their causes and allow their attribution to particular mutational signatures. Previous work has shown that mutational signature activities change over the course of tumor development, but investigations of genomic region variability in ...
Caitlin Timmons +2 more
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Accuracy of mutational signature software on correlated signatures
Scientific Reports, 2022 AbstractMutational signatures are characteristic patterns of mutations generated by exogenous mutagens or by endogenous mutational processes. Mutational signatures are important for research into DNA damage and repair, aging, cancer biology, genetic toxicology, and epidemiology.
Yang Wu +4 more
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A mutation-level covariate model for mutational signatures
PLOS Computational Biology, 2022 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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Mutational signatures in colon cancer [PDF]
BMC Research Notes, 2019 Abstract Objective Recently, many tumor sequencing studies have inferred and reported on mutational signatures, short nucleotide patterns at which particular somatic base substitutions appear more often. A number of signatures reflect biological processes in the patient and factors associated with cancer risk. Our goal is to infer mutational signatures
Priyatama Pandey +4 more
openaire +5 more sources
Trajectory and uniqueness of mutational signatures in yeast mutators [PDF]
Proceedings of the National Academy of Sciences, 2020 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
openaire +2 more sources