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A comprehensive comparison of tools for fitting mutational signatures [PDF]
Mutational signatures connect characteristic mutational patterns in the genome with biological or chemical processes that take place in cancers. Analysis of mutational signatures can help elucidate tumor evolution, prognosis, and therapeutic strategies ...
Matúš Medo+2 more
doaj +2 more sources
An overview of mutational and copy number signatures in human cancer [PDF]
The genome of each cell in the human body is constantly under assault from a plethora of exogenous and endogenous processes that can damage DNA. If not successfully repaired, DNA damage generally becomes permanently imprinted in cells, and all their ...
Alexandrov, Ludmil B+2 more
core +1 more source
Stratification of metastatic melanoma patients based on mutational signatures [PDF]
Genetic instability is one of the hallmarks of cancer, however mutations can occur for different causes and induce different effects. Mutational signatures are characteristic patterns of somatic mutations in cancer genomes, reflecting the underlying ...
Caterina Alfano+2 more
core +1 more source
Accuracy of mutational signature software on correlated signatures
Mutational 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 ...
Yang Wu+4 more
doaj +1 more source
The mutREAD method detects mutational signatures from low quantities of cancer DNA. [PDF]
Mutational processes acting on cancer genomes can be traced by investigating mutational signatures. Because high sequencing costs limit current studies to small numbers of good-quality samples, we propose a robust, cost- and time-effective method, called
core +4 more sources
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
Mutational spectra are associated with bacterial niche
As observed in cancers, individual mutagens and defects in DNA repair create distinctive mutational signatures that combine to form context-specific spectra within cells.
Christopher Ruis+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
A systematic CRISPR screen defines mutational mechanisms underpinning signatures caused by replication errors and endogenous DNA damage [PDF]
Mutational signatures are imprints of pathophysiological processes arising through tumorigenesis. We generated isogenic CRISPR-Cas9 knockouts (Δ) of 43 genes in human induced pluripotent stem cells, cultured them in the absence of added DNA damage, and ...
Agu, CA+22 more
core +4 more sources
Generating realistic null hypothesis of cancer mutational landscapes using SigProfilerSimulator
Background Performing a statistical test requires a null hypothesis. In cancer genomics, a key challenge is the fast generation of accurate somatic mutational landscapes that can be used as a realistic null hypothesis for making biological discoveries ...
Erik N. Bergstrom+3 more
doaj +1 more source