Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Gil, McVean"'
Autor:
Joshua W. Knowles, Carla Giner-Delgado, Alexander S. Lachapelle, Fernando Riveros-Mckay, Ayden Saffari, Shoa L. Clarke, Gil McVean, Saskia Selzam, Euan A. Ashley, Priyanka Seth, Hannah Wand, William A. Tarran, R. Michael Sivley, Duncan S. Palmer, Vincent Plagnol, Daniel Wells, Eva Gradovich, Peter Donnelly, Jack W. O’Sullivan, Rachel Moore, Michael E. Weale
Publikováno v:
The American Journal of Cardiology. 148:157-164
The American College of Cardiology / American Heart Association pooled cohort equations tool (ASCVD-PCE) is currently recommended to assess 10-year risk for atherosclerotic cardiovascular disease (ASCVD). ASCVD-PCE does not currently include genetic
Publikováno v:
Nature genetics
Cortes, A, Albers, P K, Dendrou, C A, Fugger, L & McVean, G 2020, ' Identifying cross-disease components of genetic risk across hospital data in the UK Biobank ', Nature Genetics, vol. 52, no. 1, pp. 126-134 . https://doi.org/10.1038/s41588-019-0550-4
Cortes, A, Albers, P K, Dendrou, C A, Fugger, L & McVean, G 2020, ' Identifying cross-disease components of genetic risk across hospital data in the UK Biobank ', Nature Genetics, vol. 52, no. 1, pp. 126-134 . https://doi.org/10.1038/s41588-019-0550-4
Genetic risk factors frequently affect multiple common human diseases, providing insight into shared pathophysiological pathways and opportunities for therapeutic development. However, systematic identification of genetic profiles of disease risk is
Autor:
Jared O'Connell, Olivier Delaneau, Allan Motyer, Samantha Welsh, Peter Donnelly, Mark Effingham, Naomi E. Allen, Jonathan Marchini, Gavin Band, Stephen Leslie, Clare Bycroft, Desislava Petkova, Damjan Vukcevic, Lloyd T. Elliott, Alan Young, Adrian Cortes, Colin Freeman, Gil McVean, Kevin Sharp
Publikováno v:
Nature. 562
The UK Biobank project is a prospective cohort study with deep genetic and phenotypic data collected on approximately 500,000 individuals from across the United Kingdom, aged between 40 and 69 at recruitment. The open resource is unique in its size a
Autor:
Lars Fugger, Gil McVean, Damjan Vukcevic, Calliope A. Dendrou, Alexander T. Dilthey, Stephen Leslie, Luke Jostins, Allan Motyer, Adrian Cortes, Peter Donnelly
Publikováno v:
Cortes, A, Dendrou, C A, Motyer, A, Jostins, L, Vukcevic, D, Dilthey, A, Donnelly, P, Leslie, S, Fugger, L & McVean, G 2017, ' Bayesian analysis of genetic association across tree-structured routine healthcare data in the UK Biobank ', Nature Genetics, vol. 49, no. 9, pp. 1311-1318 . https://doi.org/10.1038/ng.3926
Nature genetics
Nature genetics
Genetic discovery from the multitude of phenotypes extractable from routine healthcare data has the ability to radically transform our understanding of the human phenome, thereby accelerating progress towards precision medicine. However, a critical q
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c2642eebb00d56ead653068017cc59c2
https://doi.org/10.1101/105122
https://doi.org/10.1101/105122
Autor:
Oliver A. Leach, Adam R. Johnson, Jane Cheeseman, Fredrik Karpe, Thomas R Barber, Gurman Kaur, Hayley G. Evans, Charles Eigenbrot, Adrian Cortes, Stephen Sawcer, Lars Fugger, Luke Jostins, Lydia Shipman, John Bell, Soren L. Faergeman, Calliope A. Dendrou, Kathrine E. Attfield, Christine Everett, Mark Ultsch, Alastair Compston, Gil McVean, Christiane Desel, Subita Balaram Kuttikkatte, Matt J. Neville
Publikováno v:
Dendrou, C A, Cortes, A, Shipman, L, Evans, H G, Attfield, K E, Jostins, L, Barber, T, Kaur, G, Kuttikkatte, S B, Leach, O A, Desel, C, Faergeman, S L, Cheeseman, J, Neville, M J, Sawcer, S, Compston, A, Johnson, A R, Everett, C, Bell, J I, Karpe, F, Ultsch, M, Eigenbrot, C, McVean, G & Fugger, L 2016, ' Resolving TYK2 locus genotype-to-phenotype differences in autoimmunity ', Science Translational Medicine, vol. 8, no. 363, pp. 363ra149 . https://doi.org/10.1126/scitranslmed.aag1974
Thousands of genetic variants have been identified, which contribute to the development of complex diseases, but determining how to elucidate their biological consequences for translation into clinical benefit is challenging. Conflicting evidence reg
Autor:
Momin Ahmed, Peter Donnelly, Gil McVean, Douglas R. Higgs, Nigel A. Roberts, Mohamed Sabry, Veronica J. Buckle, Chris P. Ponting, Simon J. McGowan, David R. Bentley, Opher Gileadi, Luis Sanchez-Pulido, Jill M. Brown, Christian Babbs
Publikováno v:
Haematologica. 98:1383-1387
The congenital dyserythropoietic anemias are a heterogeneous group of rare disorders primarily affecting erythropoiesis with characteristic morphological abnormalities and a block in erythroid maturation. Mutations in the CDAN1 gene, which encodes Co
Autor:
Gil McVean, R T Head, Andrew J. Rimmer, Moustafa Attar, Rajesh V. Thakker, Radu Mihai, P J Newey, Michael Stechman, Greg Sadler, Paul T. Christie, M A Nesbit, David Buck, Lorna Gregory, Caroline M Gorvin
Publikováno v:
The Journal of Clinical Endocrinology & Metabolism. 97:E1995-E2005
CONTEXT: Genetic abnormalities, such as those of multiple endocrine neoplasia type 1 (MEN1) and Cyclin D1 (CCND1) genes, occur in
Autor:
George Dedoussis, Farmaki A-E., Jeremy Schwartzentruber, Gil McVean, Eleftheria Zeggini, Loukas Moutsianas, Dionysia K. Xifara, Emmanouil Tsafantakis, Ioanna Tachmazidou, Chrysoula Kiagiadaki, Laura M. Yerges-Armstrong, Yali Xue, Yuan Chen, Ritchie Grs., Nigel W. Rayner, Kalliope Panoutsopoulou, Chris Tyler-Smith, Toni I. Pollin, Angela Matchan, Konstantinos Hatzikotoulas, Lorraine Southam, Jeffery R. O'Connell
Publikováno v:
Nature Communications
Isolated populations can empower the identification of rare variation associated with complex traits through next generation association studies, but the generalizability of such findings remains unknown. Here we genotype 1,267 individuals from a Gre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5a71c0c0f23c04589ec9c24c26868d4a
https://doi.org/10.1038/ncomms3872
https://doi.org/10.1038/ncomms3872
Autor:
Nigel Rust, Sarah A. Howles, M. Andrew Nesbit, Gil McVean, Andrew J. Rimmer, Una Graham, Clare E Thakker, Rajesh V. Thakker, Steven J. Hunter, Anita A C Reed, Lorna Gregory, David Buck, Patrick J. Morrison, Treena Cranston, Fadil M. Hannan, Michael P. Whyte
Publikováno v:
Nature genetics
Adaptor protein-2 (AP2), a central component of clathrin-coated vesicles (CCVs), is pivotal in clathrin-mediated endocytosis which internalises plasma membrane constituents such as G protein-coupled receptors (GPCRs)1-3 . AP2, a heterotetramer of alp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3e54e9c9fafe9714c93bcd0d4f8e0e51
https://ora.ox.ac.uk/objects/uuid:0da29323-f6d2-417e-b290-4c7618193f70
https://ora.ox.ac.uk/objects/uuid:0da29323-f6d2-417e-b290-4c7618193f70
Autor:
Zamin Iqbal, Oliver Venn, Peter Humburg, Adam Auton, John Broxholme, Gil McVean, Adi Fledel-Alon, Cord Melton, Simon Myers, Molly Przeworski, Julian Maller, Ryan D. Hernandez, Rory Bowden, Ivy Aneas, Ellen M. Leffler, Teresa L Street, Aarti Venkat, Marcelo A. Nobrega, Gerton Lunter, Susanne P. Pfeifer, Laure Ségurel, Ronald E. Bontrop, Peter Donnelly
Publikováno v:
Science
Science, American Association for the Advancement of Science, 2012, 336 (6078), pp.193-198. ⟨10.1126/science.1216872⟩
Science, American Association for the Advancement of Science, 2012, 336 (6078), pp.193-198. ⟨10.1126/science.1216872⟩
Going Ape Over Genetic Maps Recombination is an important process in generating diversity and producing selectively advantageous genetic combinations. Thus, changes in recombination hotspots may influence speciation. To investigate the variation in r
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b69423afa39223bf7b7d38c1e4df32d3
https://doi.org/10.1126/science.1216872
https://doi.org/10.1126/science.1216872