Results 11 to 20 of about 77,245 (318)

Mutational signatures in colon cancer [PDF]

BMC Research Notes, 2019
Objective Recently, many tumor sequencing studies have inferred and reported on mutational signatures, short nucleotide patterns at which particular somatic base substitutions appear more often.
Priyatama Pandey, Zhi Yang, Darryl Shibata, Paul Marjoram, Kimberly D. Siegmund   +4 more
doaj   +7 more sources

Topography of mutational signatures in human cancer [PDF]

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   +4 more sources

Evaluating topography of mutational signatures with SigProfilerTopography [PDF]

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   +6 more sources

Accuracy of mutational signature software on correlated signatures

Scientific 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, Ellora Hui Zhen Chua, Alvin Wei Tian Ng, Arnoud Boot, Steven G. Rozen   +4 more
doaj   +3 more sources

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

Nature Communications
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, Charlotte K. Y. Ng, Michaela Medová   +2 more
doaj   +2 more sources

BASCULE: bayesian inference and clustering of mutational signatures leveraging biological priors [PDF]

Genome Biology
Mutational signatures provide key insights into cancer mutational processes, but the availability of signature catalogues generated by different groups using distinct methodologies underscores a need for standardization. We introduce a Bayesian framework
Elena Buscaroli, Azad Sadr, Riccardo Bergamin, Salvatore Milite, Edith Natalia Villegas Garcia, Arianna Tasciotti, Alessio Ansuini, Daniele Ramazzotti, Nicola Calonaci, Giulio Caravagna   +9 more
doaj   +2 more sources

SigsPack, a package for cancer mutational signatures [PDF]

BMC Bioinformatics, 2019
Background Mutational signatures are specific patterns of somatic mutations introduced into the genome by oncogenic processes. Several mutational signatures have been identified and quantified from multiple cancer studies, and some of them have been ...
Franziska Schumann, Eric Blanc, Clemens Messerschmidt, Thomas Blankenstein, Antonia Busse, Dieter Beule   +5 more
doaj   +4 more sources

Unravelling mutational signatures with plasma circulating tumour DNA [PDF]

Nature Communications
The use of circulating tumour DNA (ctDNA) to profile mutational signatures represents a non-invasive opportunity for understanding cancer mutational processes.
Sebastian Hollizeck, Ning Wang, Stephen Q. Wong, Cassandra Litchfield, Jerick Guinto, Sarah Ftouni, Richard Rebello, Sehrish Kanwal, Ruining Dong, Sean Grimmond, Shahneen Sandhu, Linda Mileshkin, Richard W. Tothill, Dineika Chandrananda, Sarah-Jane Dawson   +14 more
doaj   +2 more sources

Mutational signatures in 175 Chinese gastric cancer patients [PDF]

BMC Cancer
Background Gastric cancer (GC), a molecularly heterogeneous disease, is the third leading cause of cancer death worldwide. The majority of GC cases worldwide occur in East Asia, predominantly China.
Fatao Liu, Nan Hu, Kewei Jiang, Huaitian Liu, Mingyi Wang, Ying Hu, Tongwu Zhang, Ho-Hsiang Wu, Howard Yang, Hao Weng, Ping Dong, Carol Giffen, Bin Zhu, Maxwell P. Lee, Christian C. Abnet, Philip R. Taylor, Yun Liu, Yingbin Liu, Alisa M. Goldstein   +18 more
doaj   +2 more sources

Mutational signatures among young-onset testicular cancers [PDF]

BMC Medical Genomics, 2021
Background Incidence of testicular cancer is highest among young adults and has been increasing dramatically for men born since 1945. This study aimed to elucidate the factors driving this trend by investigating differences in mutational signatures by ...
Nicole E. Mealey, Dylan E. O’Sullivan, Cheryl E. Peters, Daniel Y. C. Heng, Darren R. Brenner   +4 more
doaj   +4 more sources