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Distinct Mutational Processes Influence Germline DNA Mutations
Cancer Discovery, 2021Abstract Nine distinct mutational processes underlie human germline mutations.
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Mutation processes at human minisatellites
ELECTROPHORESIS, 1995AbstractMinisatellites provide one of the most experimentally tractable systems for studying tandem repeat instability in man. Analysis of mutation processes has been greatly aided by the development of single molecule methods for recovering de novo mutants, and of techniques for exploring allele structure in detail.
JEFFREYS, AJ +10 more
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Genetic Process Mining: Alignment-Based Process Model Mutation
2015The Evolutionary Tree Miner (ETM) is a genetic process discovery algorithm that enables the user to guide the discovery process based on preferences with respect to four process model quality dimensions: replay fitness, precision, generalization and simplicity.
Eck, van, M.L. +2 more
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Mutational signatures and processes in hepatobiliary cancers
Nature Reviews Gastroenterology & Hepatology, 2022The evolutionary history of hepatobiliary cancers is embedded in their genomes. By analysing their catalogue of somatic mutations and the DNA sequence context in which they occur, it is possible to infer the mechanisms underpinning tumorigenesis. These mutational signatures reflect the exogenous and endogenous origins of genetic damage as well as the ...
Ekaterina Zhuravleva +2 more
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Measuring spontaneous deleterious mutation process
Genetica, 1998Parameters of the deleterious mutation process can be estimated using the data on genotypes, phenotypes, or fitnesses. These data can be on long-term evolution, on short-term changes, or on the properties of equilibrium populations. The two most important parameters at the genomic level, the total deleterious mutation rate U and the mutational pressure
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The Mutation Process in Colored Coalescent Theory
Bulletin of Mathematical Biology, 2009The mutation process is introduced into the colored coalescent theory. The mutation process can be viewed as an independent Poisson process running on the colored genealogical random tree generated by the colored coalescent process, with the edge lengths of the random tree serving as the time scale for the mutation process.
Tian, Jianjun Paul, Lin, Xiao-Song
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Mutational process and microevolution
Genetica, 1980Long term observations of the gene pool of the same and geographically separated populations of Drosophila melanogaster forced us to return to the old idea of De Vries about the existence of mutation periods and fluctuations in the mutation rate with time. A 3- to 5-fold increase of the total mutation rate was estimated by the frequency of lethals, and
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Mutation Research - Fundamental and Molecular Mechanisms of Mutagenesis, 2017
Compared to analyzing mutations with conventional spectra, deciphering mutational signatures provides much greater resolution of biological processes that generate somatic mutations during cancer development. Previous studies of bladder urothelial cancer (BLCA) and cervical squamous cell carcinoma (CESC) mutational signatures failed to uncover ...
Nan, Zhou +4 more
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Compared to analyzing mutations with conventional spectra, deciphering mutational signatures provides much greater resolution of biological processes that generate somatic mutations during cancer development. Previous studies of bladder urothelial cancer (BLCA) and cervical squamous cell carcinoma (CESC) mutational signatures failed to uncover ...
Nan, Zhou +4 more
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Mutational Processes in Hepatocellular Carcinoma: The Story of Aristolochic Acid
Seminars in liver disease (Print), 2019Each hepatocellular carcinoma displays dozens of mutations in driver and passenger genes. The analysis of the types of substitutions and their trinucleotide context defines mutational signatures that recapitulate the endogenous and exogenous mutational ...
J. Nault, E. Letouzé
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