Results 11 to 20 of about 84,630 (272)
Mutational signatures in colon cancer. [PDF]
BMC Research Notes, 2019 ObjectiveRecently, many tumor sequencing studies have inferred and reported on mutational signatures, short nucleotide patterns at which particular somatic base substitutions appear more often.
Marjoram, Paul +4 more
core +7 more sources
Mutational signatures: experimental design and analytical framework [PDF]
Genome Biology, 2020 Mutational signatures provide a powerful alternative for understanding the pathophysiology of cancer. Currently, experimental efforts aimed at validating and understanding the etiologies of cancer-derived mutational signatures are underway.
Gene Koh, Xueqing Zou, Serena Nik-Zainal
doaj +5 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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Accuracy of mutational signature software on correlated signatures. [PDF]
Sci Rep, 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.
Wu Y +4 more
europepmc +4 more sources
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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Evaluating topography of mutational signatures with SigProfilerTopography
Genome BiologyThe 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.
Burçak Otlu, Ludmil B. Alexandrov
doaj +5 more sources
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
openaire +3 more sources
MutationalPatterns: the one stop shop for the analysis of mutational processes
BMC Genomics, 2022 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 investigated by extracting relevant mutational patterns from sequencing data.
Freek Manders +9 more
doaj +1 more source
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
Photochemistry and Photobiology, 2014 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