Results 51 to 60 of about 18,996,847 (344)

Identification of multiplicatively acting modulatory mutational signatures in cancer

BMC Bioinformatics, 2022
Background A deep understanding of carcinogenesis at the DNA level underpins many advances in cancer prevention and treatment. Mutational signatures provide a breakthrough conceptualisation, as well as an analysis framework, that can be used to build ...
Dovydas Kičiatovas, Qingli Guo, Miika Kailas, Henri Pesonen, Jukka Corander, Samuel Kaski, Esa Pitkänen, Ville Mustonen   +7 more
doaj   +1 more source

Telomere-driven mutational processes in yeast [PDF]

Current Opinion in Genetics & Development, 2020
Telomeres are part of the system that guards genome integrity in eukaryotes, protecting linear chromosomes from fusions and degradations. The protective functions of telomeres are put at risk in physiological situations where telomeres shorten and trigger replicative senescence.
Henninger, Erin, Teixeira, Maria Teresa
openaire   +3 more sources

Topography of mutational signatures in human cancer

Cell Reports, 2023
Summary: The 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.
Burçak Otlu, Marcos Díaz-Gay, Ian Vermes, Erik N. Bergstrom, Maria Zhivagui, Mark Barnes, Ludmil B. Alexandrov   +6 more
doaj   +1 more source

Clone decomposition based on mutation signatures provides novel insights into mutational processes. [PDF]

NAR Genom Bioinform, 2021
Abstract Intra-tumor heterogeneity is a phenomenon in which mutation profiles differ from cell to cell within the same tumor and is observed in almost all tumors. Understanding intra-tumor heterogeneity is essential from the clinical perspective.
Matsutani T, Hamada M.
europepmc   +4 more sources

Characterization of SARS-CoV-2 Mutational Signatures from 1.5+ Million Raw Sequencing Samples

Viruses, 2022
We present a large-scale analysis of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) substitutions, considering 1,585,456 high-quality raw sequencing samples, aimed at investigating the existence and quantifying the effect of mutational ...
Andrea Aroldi, Fabrizio Angaroni, Deborah D’Aliberti, Silvia Spinelli, Ilaria Crespiatico, Valentina Crippa, Rocco Piazza, Alex Graudenzi, Daniele Ramazzotti   +8 more
doaj   +1 more source

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

Genome 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, Damian Wojtowicz, Rebecca Sarto Basso, Itay Sason, Welles Robinson, Dorit S. Hochbaum, Mark D. M. Leiserson, Roded Sharan, Fabio Vadin, Teresa M. Przytycka   +9 more
doaj   +1 more source

Functional and genetic determinants of mutation rate variability in regulatory elements of cancer genomes

Genome Biology, 2021
Background Cancer genomes are shaped by mutational processes with complex spatial variation at multiple scales. Entire classes of regulatory elements are affected by local variations in mutation frequency.
Christian A. Lee, Diala Abd-Rabbo, Jüri Reimand   +2 more
doaj   +1 more source

Signatures of Mutational Processes in Human DNA Evolution

bioRxiv, 2021
The human genome contains over 100 million SNPs, most of which are C/T (G/A) variations. The type and sequence context of these SNPs are not random, suggesting that they are caused by distinct mutational processes.
H. Hamidi, Hamid Alinejad-Rokny, Tim H. H. Coorens, R. Sanghvi, S. Lindsay, R. Rahbari, Diako Ebrahimi   +6 more
semanticscholar   +1 more source

Non-coding cancer driver candidates identified with a sample- and position-specific model of the somatic mutation rate

eLife, 2017
Non-coding mutations may drive cancer development. Statistical detection of non-coding driver regions is challenged by a varying mutation rate and uncertainty of functional impact.
Malene Juul, Johanna Bertl, Qianyun Guo, Morten Muhlig Nielsen, Michał Świtnicki, Henrik Hornshøj, Tobias Madsen, Asger Hobolth, Jakob Skou Pedersen   +8 more
doaj   +1 more source

Cancer Mutational Processes Vary in Their Association with Replication Timing and Chromatin Accessibility

Cancer Research, 2021
Many mutational processes associate with early or late replication timing regions independently of chromatin accessibility, enabling development of a focused identification approach to improve mutational signature detection.
Adar Yaacov, Oriya Vardi, Britny Blumenfeld, Avraham Greenberg, Dashiell J. Massey, A. Koren, S. Adar, I. Simon, Shai Rosenberg   +8 more
semanticscholar   +1 more source