Results 1 to 10 of about 200,238 (297)

Somatic point mutation calling in low cellularity tumors. [PDF]

PLoS ONE, 2013
Somatic mutation calling from next-generation sequencing data remains a challenge due to the difficulties of distinguishing true somatic events from artifacts arising from PCR, sequencing errors or mis-mapping.
Karin S Kassahn, Oliver Holmes, Katia Nones, Ann-Marie Patch, David K Miller, Angelika N Christ, Ivon Harliwong, Timothy J Bruxner, Qinying Xu, Matthew Anderson, Scott Wood, Conrad Leonard, Darrin Taylor, Felicity Newell, Sarah Song, Senel Idrisoglu, Craig Nourse, Ehsan Nourbakhsh, Suzanne Manning, Shivangi Wani, Anita Steptoe, Marina Pajic, Mark J Cowley, Mark Pinese, David K Chang, Anthony J Gill, Amber L Johns, Jianmin Wu, Peter J Wilson, Lynn Fink, Andrew V Biankin, Nicola Waddell, Sean M Grimmond, John V Pearson   +33 more
doaj   +7 more sources

Differences between germline and somatic mutation rates in humans and mice

Nature Communications, 2017
Germline mutation rates are known to vary between species but somatic mutation rates are less well understood. Here the authors compare mice and humans, observing that somatic mutation rates were nearly two orders of magnitude higher in both species ...
Brandon Milholland, Xiao Dong, Lei Zhang, Xiaoxiao Hao, Yousin Suh, Jan Vijg   +5 more
doaj   +2 more sources

Somatic mutations substantially increase the per‐generation mutation rate in the conifer Picea sitchensis

Evolution Letters, 2019
The rates and biological significance of somatic mutations have long been a subject of debate. Somatic mutations in plants are expected to accumulate with vegetative growth and time, yet rates of somatic mutations are unknown for conifers, which can ...
Vincent C. T. Hanlon, Sarah P. Otto, Sally N. Aitken   +2 more
doaj   +2 more sources

Somatic mutation rates scale with time not growth rate in long-lived tropical trees [PDF]

eLife
The rates of appearance of new mutations play a central role in evolution. However, mutational processes in natural environments and their relationship with growth rates are largely unknown, particular in tropical ecosystems with high biodiversity. Here,
Akiko Satake, Ryosuke Imai, Takeshi Fujino, Sou Tomimoto, Kayoko Ohta, Mohammad Na'iem, Sapto Indrioko, Widiyatno Widiyatno, Susilo Purnomo, Almudena Molla Morales, Viktoria Nizhynska, Naoki Tani, Yoshihisa Suyama, Eriko Sasaki, Masahiro Kasahara   +14 more
doaj   +2 more sources

Somatic Mutations and Autoimmunity [PDF]

Cells, 2021
Autoimmune diseases are among the most common chronic illness caused by a dysregulated immune response against self-antigens. Close to 5% of the general population in Western countries develops some form of autoimmunity, yet its underlying causes, although intensively studied, are still not fully known, and no curative therapies exist.
Maha Alriyami, Constantin Polychronakos
openaire   +3 more sources

Bayesian networks elucidate complex genomic landscapes in cancer

Communications Biology, 2022
Bayesian network inference on several blood and solid cancer genomic datasets provides more accessible ways to explore driver events in cancer.
Nicos Angelopoulos, Aikaterini Chatzipli, Jyoti Nangalia, Francesco Maura, Peter J. Campbell   +4 more
doaj   +1 more source

Inherited MUTYH mutations cause elevated somatic mutation rates and distinctive mutational signatures in normal human cells

Nature Communications, 2022
Inherited mutations in MUTYH have been shown to predispose patients to colorectal cancers. Here, the authors show that MUTYH mutations lead to an increased somatic base substitution mutation rate in normal intestinal epithelial cells, which is the likely
Philip S. Robinson, Laura E. Thomas, Federico Abascal, Hyunchul Jung, Luke M. R. Harvey, Hannah D. West, Sigurgeir Olafsson, Bernard C. H. Lee, Tim H. H. Coorens, Henry Lee-Six, Laura Butlin, Nicola Lander, Rebekah Truscott, Mathijs A. Sanders, Stefanie V. Lensing, Simon J. A. Buczacki, Rogier ten Hoopen, Nicholas Coleman, Roxanne Brunton-Sim, Simon Rushbrook, Kourosh Saeb-Parsy, Fiona Lalloo, Peter J. Campbell, Iñigo Martincorena, Julian R. Sampson, Michael R. Stratton   +25 more
doaj   +1 more source

The architecture of clonal expansions in morphologically normal tissue from cancerous and non-cancerous prostates

Molecular Cancer, 2022
Background Up to 80% of cases of prostate cancer present with multifocal independent tumour lesions leading to the concept of a field effect present in the normal prostate predisposing to cancer development.
Claudia Buhigas, Anne Y. Warren, Wing-Kit Leung, Hayley C. Whitaker, Hayley J. Luxton, Steve Hawkins, Jonathan Kay, Adam Butler, Yaobo Xu, Dan J. Woodcock, Sue Merson, Fiona M. Frame, Atef Sahli, Federico Abascal, CRUK-ICGC Prostate Cancer Group, Iñigo Martincorena, G. Steven Bova, Christopher S. Foster, Peter Campbell, Norman J. Maitland, David E. Neal, Charlie E. Massie, Andy G. Lynch, Rosalind A. Eeles, Colin S. Cooper, David C. Wedge, Daniel S. Brewer   +26 more
doaj   +1 more source

Common clonal origin of conventional T cells and induced regulatory T cells in breast cancer patients

Nature Communications, 2021
The mechanisms that shape the regulatory T cell repertoire in patients with cancer are not completely understood. Here, the authors observe that, in breast cancer patients, tumor-resident regulatory T cells do not show clonal relationship with their ...
Maria Xydia, Raheleh Rahbari, Eliana Ruggiero, Iain Macaulay, Maxime Tarabichi, Robert Lohmayer, Stefan Wilkening, Tillmann Michels, Daniel Brown, Sebastiaan Vanuytven, Svetlana Mastitskaya, Sean Laidlaw, Niels Grabe, Maria Pritsch, Raffaele Fronza, Klaus Hexel, Steffen Schmitt, Michael Müller-Steinhardt, Niels Halama, Christoph Domschke, Manfred Schmidt, Christof von Kalle, Florian Schütz, Thierry Voet, Philipp Beckhove   +24 more
doaj   +1 more source

Linear covariation between germline and somatic mutation rates across ciliates and mammals [PDF]

Current Biology
Wei Miao, Jianzhi Zhang
exaly   +2 more sources