Zobrazeno 1 - 10
of 35
pro vyhledávání: '"Iñigo Martincorena"'
Autor:
Elizabeth J. Radford, Hong-Kee Tan, Malin H. L. Andersson, James D. Stephenson, Eugene J. Gardner, Holly Ironfield, Andrew J. Waters, Daniel Gitterman, Sarah Lindsay, Federico Abascal, Iñigo Martincorena, Anna Kolesnik-Taylor, Elise Ng-Cordell, Helen V. Firth, Kate Baker, John R. B. Perry, David J. Adams, Sebastian S. Gerety, Matthew E. Hurles
Publikováno v:
Nature Communications, Vol 14, Iss 1, Pp 1-17 (2023)
Abstract Loss-of-function of DDX3X is a leading cause of neurodevelopmental disorders (NDD) in females. DDX3X is also a somatically mutated cancer driver gene proposed to have tumour promoting and suppressing effects. We perform saturation genome edi
Externí odkaz:
https://doaj.org/article/787606f0736b45d2b045e1283e0cd595
Autor:
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
Publikováno v:
Molecular Cancer, Vol 21, Iss 1, Pp 1-16 (2022)
Abstract 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. In the present study we applied W
Externí odkaz:
https://doaj.org/article/ab88a2ce376d486096a3008701e9592f
Autor:
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
Publikováno v:
Nature Communications, Vol 13, Iss 1, Pp 1-12 (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 li
Externí odkaz:
https://doaj.org/article/c14b563faf084d9f9abf9b953d1b62bf
Publikováno v:
BMC Bioinformatics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract 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 d
Externí odkaz:
https://doaj.org/article/607653a1f6194867833f277b9264359a
Autor:
Nadezda V. Volkova, Bettina Meier, Víctor González-Huici, Simone Bertolini, Santiago Gonzalez, Harald Vöhringer, Federico Abascal, Iñigo Martincorena, Peter J. Campbell, Anton Gartner, Moritz Gerstung
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-15 (2020)
Recent research has shown that mutational signatures reflective of the history of a cancer can be detected in a cancer genome. Here, using whole genome sequencing of DNA repair deficient and proficient nematodes exposed to genotoxins, the authors sho
Externí odkaz:
https://doaj.org/article/586f62ed751f4d509ab638e75a89c6f7
Autor:
Jorge Sepulcre, Hesheng Liu, Tanveer Talukdar, Iñigo Martincorena, B T Thomas Yeo, Randy L Buckner
Publikováno v:
PLoS Computational Biology, Vol 6, Iss 6, p e1000808 (2010)
Information processing in the human brain arises from both interactions between adjacent areas and from distant projections that form distributed brain systems. Here we map interactions across different spatial scales by estimating the degree of intr
Externí odkaz:
https://doaj.org/article/6ef5bdadb75b4081af797149a6e94078
Autor:
S.M. Ashiqul Islam, Marcos Díaz-Gay, Yang Wu, Mark Barnes, Raviteja Vangara, Erik N. Bergstrom, Yudou He, Mike Vella, Jingwei Wang, Jon W. Teague, Peter Clapham, Sarah Moody, Sergey Senkin, Yun Rose Li, Laura Riva, Tongwu Zhang, Andreas J. Gruber, Christopher D. Steele, Burçak Otlu, Azhar Khandekar, Ammal Abbasi, Laura Humphreys, Natalia Syulyukina, Samuel W. Brady, Boian S. Alexandrov, Nischalan Pillay, Jinghui Zhang, David J. Adams, Iñigo Martincorena, David C. Wedge, Maria Teresa Landi, Paul Brennan, Michael R. Stratton, Steven G. Rozen, Ludmil B. Alexandrov
Publikováno v:
Cell genomics, vol 2, iss 11
Mutational signature analysis is commonly performed in cancer genomic studies. Here, we present SigProfilerExtractor, an automated tool for de novo extraction of mutational signatures, and benchmark it against another 13 bioinformatics tools by using
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d66650f68920d43fde2ce688d861fe80
https://escholarship.org/uc/item/9b82739r
https://escholarship.org/uc/item/9b82739r
Autor:
Sigurgeir Olafsson, Elke Rodriguez, Andrew R.J. Lawson, Federico Abascal, Philip H. Jones, Sascha Gerdes, Iñigo Martincorena, Stephan Weidinger, Peter J. Campbell, Carl A. Anderson
Somatic mutations are hypothesised to play a role in many non-neoplastic diseases. These diseases may also shape the somatic mutation landscape of affected tissues after onset. We performed whole-exome sequencing of 1182 microbiopsies dissected from
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c92b3c36a4cd64e4ce67f6ea8ca6bd7b
https://doi.org/10.1101/2022.07.04.22277086
https://doi.org/10.1101/2022.07.04.22277086
Autor:
Margarete A. Fabre, José Guilherme de Almeida, Edoardo Fiorillo, Emily Mitchell, Aristi Damaskou, Justyna Rak, Valeria Orrù, Michele Marongiu, Michael Spencer Chapman, M. S. Vijayabaskar, Joanna Baxter, Claire Hardy, Federico Abascal, Nicholas Williams, Jyoti Nangalia, Iñigo Martincorena, Peter J. Campbell, Eoin F. McKinney, Francesco Cucca, Moritz Gerstung, George S. Vassiliou
Funder: European Research Council
Clonal expansions driven by somatic mutations become pervasive across human tissues with age, including in the haematopoietic system, where the phenomenon is termed clonal haematopoiesis1-4. The understanding of
Clonal expansions driven by somatic mutations become pervasive across human tissues with age, including in the haematopoietic system, where the phenomenon is termed clonal haematopoiesis1-4. The understanding of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::193bfe0782a4fe26b54f51401d33bd24
https://www.repository.cam.ac.uk/handle/1810/337905
https://www.repository.cam.ac.uk/handle/1810/337905
Autor:
Alex Cagan, Adrian Baez-Ortega, Natalia Brzozowska, Federico Abascal, Tim H. H. Coorens, Mathijs A. Sanders, Andrew R. J. Lawson, Luke M. R. Harvey, Shriram Bhosle, David Jones, Raul E. Alcantara, Timothy M. Butler, Yvette Hooks, Kirsty Roberts, Elizabeth Anderson, Sharna Lunn, Edmund Flach, Simon Spiro, Inez Januszczak, Ethan Wrigglesworth, Hannah Jenkins, Tilly Dallas, Nic Masters, Matthew W. Perkins, Robert Deaville, Megan Druce, Ruzhica Bogeska, Michael D. Milsom, Björn Neumann, Frank Gorman, Fernando Constantino-Casas, Laura Peachey, Diana Bochynska, Ewan St. John Smith, Moritz Gerstung, Peter J. Campbell, Elizabeth P. Murchison, Michael R. Stratton, Iñigo Martincorena
Publikováno v:
Nature, 604(7906), 517-524. Nature Publishing Group
The rates and patterns of somatic mutation in normal tissues are largely unknown outside of humans1–7. Comparative analyses can shed light on the diversity of mutagenesis across species, and on long-standing hypotheses about the evolution of somati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::096251bc8908bc7bbf5862ed9641691d
https://www.repository.cam.ac.uk/handle/1810/336271
https://www.repository.cam.ac.uk/handle/1810/336271