Results 21 to 30 of about 1,869,696 (352)

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

MSA: reproducible mutational signature attribution with confidence based on simulations

BMC Bioinformatics, 2021
Background Mutational signatures proved to be a useful tool for identifying patterns of mutations in genomes, often providing valuable insights about mutagenic processes or normal DNA damage.
Sergey Senkin
doaj   +2 more sources

The Mutational Signature Comprehensive Analysis Toolkit (musicatk) for the Discovery, Prediction, and Exploration of Mutational Signatures [PDF]

Cancer Research, 2020
The musicatk package empowers researchers to characterize mutational signatures and tumor heterogeneity with a comprehensive set of preprocessing utilities, discovery and prediction tools, and multiple functions for downstream analysis and visualization.
A. Chevalier, Shiyi Yang, Zainab Khurshid, N. Sahelijo, Tong Tong, Jonathan Huggins, Masanao Yajima, Joshua D. Campbell   +7 more
semanticscholar   +4 more sources

An APOBEC3 Mutational Signature in the Genomes of Human-Infecting Orthopoxviruses. [PDF]

mSphere, 2023
Forni D, Cagliani R, Pozzoli U, Sironi M.   +3 more
europepmc   +2 more sources

Analysis of Mutations and Dysregulated Pathways Unravels Carcinogenic Effect and Clinical Actionability of Mutational Processes

Frontiers in Cell and Developmental Biology, 2021
Somatic mutations accumulate over time in cancer cells as a consequence of mutational processes. However, the role of mutational processes in carcinogenesis remains poorly understood.
Zedong Jiang, Gaoming Liao, Yiran Yang, Yujia Lan, Liwen Xu, Min Yan, Yao Zhou, Jiali Zhu, Wei Liu, Jing Bai, Jing Bai, Yun Xiao, Yun Xiao, Xia Li, Xia Li   +14 more
doaj   +1 more source

Accurate and sensitive mutational signature analysis with MuSiCal

bioRxiv, 2023
Mutational signature analysis is a recent computational approach for interpreting somatic mutations in the genome. Its application to cancer data has enhanced our understanding of mutational forces driving tumorigenesis and demonstrated its potential to ...
Hu Jin, D. Gulhan, Benedikt Geiger, Daniel Ben-Isvy, David Geng, V. Ljungstrom, Peter J. Park   +6 more
semanticscholar   +1 more source

Mutational signature dynamics shaping the evolution of oesophageal adenocarcinoma

Nature Communications, 2023
A variety of mutational processes drive cancer development, but their dynamics across the entire disease spectrum from pre-cancerous to advanced neoplasia are poorly understood.
Sujath Abbas, O. Pich, G. Devonshire, S. Zamani, A. Katz-Summercorn, S. Killcoyne, Calvin Cheah, B. Nutzinger, N. Grehan, N. López-Bigas, R. Fitzgerald, M. Secrier   +11 more
semanticscholar   +1 more source

Mutational Signature 3 Detected from Clinical Panel Sequencing is Associated with Responses to Olaparib in Breast and Ovarian Cancers

Clinical Cancer Research, 2022
Purpose: The identification of patients with homologous recombination deficiency (HRD) beyond BRCA1/2 mutations is an urgent task, as they may benefit from PARP inhibitors.
Felipe Batalini, D. Gulhan, V. Mao, Antuan V Tran, Madeline Polak, N. Xiong, N. Tayob, N. Tung, Eric P. Winer, E. Mayer, S. Knappskog, P. Lønning, U. Matulonis, P. Konstantinopoulos, D. Solit, H. Won, H. P. Eikesdal, Peter J. Park, G. Wulf   +18 more
semanticscholar   +1 more source

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, Mark D M, Leiserson, Priya, Moorjani, Roded, Sharan, Damian, Wojtowicz, Teresa M, Przytycka   +5 more
openaire   +2 more sources

Evaluating topography of mutational signatures with SigProfilerTopography

Genome Biology
The 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