Zobrazeno 1 - 10
of 140
pro vyhledávání: '"Colin A Semple"'
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:
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
Autor:
Vera B Kaiser, Colin A Semple
Publikováno v:
F1000Research, Vol 6 (2017)
Chromatin in the interphase nucleus is organised as a hierarchical series of structural domains, including self-interacting domains called topologically associating domains (TADs). This arrangement is thought to bring enhancers into closer physical p
Externí odkaz:
https://doaj.org/article/83083e8dbf714e8cbc8afae0ef8e16f4
Publikováno v:
PLoS Genetics, Vol 12, Iss 8, p e1006207 (2016)
Disruption of gene regulation is known to play major roles in carcinogenesis and tumour progression. Here, we comprehensively characterize the mutational profiles of diverse transcription factor binding sites (TFBSs) across 1,574 completely sequenced
Externí odkaz:
https://doaj.org/article/8f51262f53e94546a121a48fbebbfbc3
Autor:
Stuart Aitken, Shigeyuki Magi, Ahmad M N Alhendi, Masayoshi Itoh, Hideya Kawaji, Timo Lassmann, Carsten O Daub, Erik Arner, Piero Carninci, Alistair R R Forrest, Yoshihide Hayashizaki, FANTOM Consortium, Levon M Khachigian, Mariko Okada-Hatakeyama, Colin A Semple
Publikováno v:
PLoS Computational Biology, Vol 11, Iss 4, p e1004217 (2015)
The immediate-early response mediates cell fate in response to a variety of extracellular stimuli and is dysregulated in many cancers. However, the specificity of the response across stimuli and cell types, and the roles of non-coding RNAs are not we
Externí odkaz:
https://doaj.org/article/1582b81508e64d2386af0174ee0d1964
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:
James G D Prendergast, Colin A Semple
Publikováno v:
PLoS Genetics, Vol 9, Iss 5, p e1003528 (2013)
Externí odkaz:
https://doaj.org/article/d7915eb074a748c38d7c1ad488730427
Publikováno v:
PLoS Computational Biology, Vol 9, Iss 4, p e1003017 (2013)
Several recent studies have examined different aspects of mammalian higher order chromatin structure - replication timing, lamina association and Hi-C inter-locus interactions - and have suggested that most of these features of genome organisation ar
Externí odkaz:
https://doaj.org/article/bc3a9f4fcb9049dba98f5c6edf317d12
Autor:
Graciana Diez-Roux, Sandro Banfi, Marc Sultan, Lars Geffers, Santosh Anand, David Rozado, Alon Magen, Elena Canidio, Massimiliano Pagani, Ivana Peluso, Nathalie Lin-Marq, Muriel Koch, Marchesa Bilio, Immacolata Cantiello, Roberta Verde, Cristian De Masi, Salvatore A Bianchi, Juliette Cicchini, Elodie Perroud, Shprese Mehmeti, Emilie Dagand, Sabine Schrinner, Asja Nürnberger, Katja Schmidt, Katja Metz, Christina Zwingmann, Norbert Brieske, Cindy Springer, Ana Martinez Hernandez, Sarah Herzog, Frauke Grabbe, Cornelia Sieverding, Barbara Fischer, Kathrin Schrader, Maren Brockmeyer, Sarah Dettmer, Christin Helbig, Violaine Alunni, Marie-Annick Battaini, Carole Mura, Charlotte N Henrichsen, Raquel Garcia-Lopez, Diego Echevarria, Eduardo Puelles, Elena Garcia-Calero, Stefan Kruse, Markus Uhr, Christine Kauck, Guangjie Feng, Nestor Milyaev, Chuang Kee Ong, Lalit Kumar, MeiSze Lam, Colin A Semple, Attila Gyenesei, Stefan Mundlos, Uwe Radelof, Hans Lehrach, Paolo Sarmientos, Alexandre Reymond, Duncan R Davidson, Pascal Dollé, Stylianos E Antonarakis, Marie-Laure Yaspo, Salvador Martinez, Richard A Baldock, Gregor Eichele, Andrea Ballabio
Publikováno v:
PLoS Biology, Vol 9, Iss 1, p e1000582 (2011)
Ascertaining when and where genes are expressed is of crucial importance to understanding or predicting the physiological role of genes and proteins and how they interact to form the complex networks that underlie organ development and function. It i
Externí odkaz:
https://doaj.org/article/53f4f9a3fc1a40e48974380ea4a8229d
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