Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Colin, A Semple"'
Autor:
Mihail Halachev, Viktoria-Eleni Gountouna, Alison Meynert, Gannie Tzoneva, Alan R. Shuldiner, Colin A. Semple, James F. Wilson
Publikováno v:
Nature Communications, Vol 15, Iss 1, Pp 1-14 (2024)
Abstract It is unclear how patterns of regional genetic differentiation in the UK and Ireland might impact the protein-coding fraction of the genome. We exploit UK Biobank (UKB) and Viking Genes whole exome sequencing data to study regional genetic d
Externí odkaz:
https://doaj.org/article/a83a3ee794774ee0b9a9a70a69d6acce
Publikováno v:
Cell Reports, Vol 43, Iss 11, Pp 114905- (2024)
Summary: Advances in protein structure determination and modeling allow us to study the structural context of human genetic variants on an unprecedented scale. Here, we analyze millions of cancer-associated missense mutations based on their structura
Externí odkaz:
https://doaj.org/article/403613131abc4ca18e3b2dea88963fa7
Autor:
Stuart Aitken, Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, David R. FitzPatrick, Colin A. Semple
Publikováno v:
HGG Advances, Vol 4, Iss 1, Pp 100162- (2023)
Summary: Diagnosing rare developmental disorders using genome-wide sequencing data commonly necessitates review of multiple plausible candidate variants, often using ontologies of categorical clinical terms. We show that Integrating Multiple Phenotyp
Externí odkaz:
https://doaj.org/article/02b9675f33534c6bae4aba0033a026ad
Autor:
Robert L. Hollis, Barbara Stanley, John P. Thomson, Michael Churchman, Ian Croy, Tzyvia Rye, Clare Bartos, Fiona Nussey, Melanie Mackean, Alison M. Meynert, Colin A. Semple, Charlie Gourley, C. Simon Herrington
Publikováno v:
npj Precision Oncology, Vol 5, Iss 1, Pp 1-9 (2021)
Abstract Endometrioid ovarian carcinoma (EnOC) is an under-investigated ovarian cancer type. Recent studies have described disease subtypes defined by genomics and hormone receptor expression patterns; here, we determine the relationship between thes
Externí odkaz:
https://doaj.org/article/4527ed8d1b464da188a3bb4b385ac1a6
Autor:
Marion Bonneau, Shane T. O’ Sullivan, Miguel A. Gonzalez-Lozano, Paul Baxter, Phillippe Gautier, Elena Marchisella, Neil R. Hardingham, Robert A. Chesters, Helen Torrance, David M. Howard, Maurits A. Jansen, Melanie McMillan, Yasmin Singh, Michel Didier, Frank Koopmans, Colin A. Semple, Andrew M. McIntosh, Hansjürgen Volkmer, Maarten Loos, Kevin Fox, Giles E. Hardingham, Anthony C. Vernon, David J. Porteous, August B. Smit, David J. Price, J. Kirsty Millar
Publikováno v:
Translational Psychiatry, Vol 11, Iss 1, Pp 1-16 (2021)
Abstract A balanced t(1;11) translocation that directly disrupts DISC1 is linked to schizophrenia and affective disorders. We previously showed that a mutant mouse, named Der1, recapitulates the effect of the translocation upon DISC1 expression. Here
Externí odkaz:
https://doaj.org/article/392e0db05f914e418b87d06cd79f30fb
Autor:
Robert L. Hollis, John P. Thomson, Barbara Stanley, Michael Churchman, Alison M. Meynert, Tzyvia Rye, Clare Bartos, Yasushi Iida, Ian Croy, Melanie Mackean, Fiona Nussey, Aikou Okamoto, Colin A. Semple, Charlie Gourley, C. Simon Herrington
Publikováno v:
Nature Communications, Vol 11, Iss 1, Pp 1-10 (2020)
The molecular classification of endometroid ovarian carcinomas (EnOC) has not been established, preventing the development of stratified therapeutic approaches. Here the authors characterise the molecular landscape of EnOC by whole exome sequencing,
Externí odkaz:
https://doaj.org/article/232b42338ac04ca39f011da44d0890a8
Autor:
James P. Blackmur, Peter G. Vaughan-Shaw, Kevin Donnelly, Bradley T. Harris, Victoria Svinti, Anna-Maria Ochocka-Fox, Paz Freile, Marion Walker, Toby Gurran, Stuart Reid, Colin A. Semple, Farhat V. N. Din, Maria Timofeeva, Malcolm G. Dunlop, Susan M. Farrington
Publikováno v:
Frontiers in Genetics, Vol 12 (2022)
Colorectal cancer (CRC) is a common, multifactorial disease. While observational studies have identified an association between lower vitamin D and higher CRC risk, supplementation trials have been inconclusive and the mechanisms by which vitamin D m
Externí odkaz:
https://doaj.org/article/686e8d86035a450290be3bc78efa9387
Autor:
Tracy J. Ballinger, Britta A. M. Bouwman, Reza Mirzazadeh, Silvano Garnerone, Nicola Crosetto, Colin A. Semple
Publikováno v:
Genome Biology, Vol 20, Iss 1, Pp 1-15 (2019)
Abstract Background Structural variants (SVs) are known to play important roles in a variety of cancers, but their origins and functional consequences are still poorly understood. Many SVs are thought to emerge from errors in the repair processes fol
Externí odkaz:
https://doaj.org/article/0ed9b9678a37451d827a0ab21a8d0656
Autor:
Mihail Halachev, Alison Meynert, Martin S Taylor, Veronique Vitart, Shona M Kerr, Lucija Klaric, S. G. P. Consortium, Timothy J Aitman, Chris S Haley, James G Prendergast, Carys Pugh, David A Hume, Sarah E Harris, David C Liewald, Ian J Deary, Colin A Semple, James F Wilson
Publikováno v:
PLoS Genetics, Vol 15, Iss 11, p e1008480 (2019)
Human population isolates provide a snapshot of the impact of historical demographic processes on population genetics. Such data facilitate studies of the functional impact of rare sequence variants on biomedical phenotypes, as strong genetic drift c
Externí odkaz:
https://doaj.org/article/09ea862e75084e98bfa75eb5fa8e4a38
Autor:
Vera B. Kaiser, Colin A. Semple
Publikováno v:
Genome Biology, Vol 19, Iss 1, Pp 1-14 (2018)
Abstract Background Chromatin loops form a basic unit of interphase nuclear organization, with chromatin loop anchor points providing contacts between regulatory regions and promoters. However, the mutational landscape at these anchor points remains
Externí odkaz:
https://doaj.org/article/6233e6f26e804b68a0176b668e098c30