Results 11 to 20 of about 79,548 (256)

A comprehensive comparison of tools for fitting mutational signatures [PDF]

open access: yesNature Communications, 2023
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]

open access: yes, 2022
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]

open access: yes, 2023
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

open access: yesScientific Reports, 2022
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]

open access: yes, 2020
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

Network-based approaches elucidate differences within APOBEC and clock-like signatures in breast cancer

open access: yesGenome Medicine, 2020
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

open access: yesNature Communications, 2023
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

iMutSig: a web application to identify the most similar mutational signature using shiny [version 2; peer review: 2 approved]

open access: yesF1000Research, 2020
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]

open access: yes, 2021
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

open access: yesBMC Bioinformatics, 2020
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

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