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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases.
Raffaele Ferrari, Yunpeng Wang, Jana Vandrovcova, Sebastian Guelfi, Aree Witeolar, Celeste M Karch, Andrew J Schork, Chun C Fan, James B Brewer, International FTD-Genomics Consortium (IFGC), International Parkinson's Disease Genomics Consortium (IPDGC), International Genomics of Alzheimer's Project (IGAP), Parastoo Momeni, Gerard D Schellenberg, William P Dillon, Leo P Sugrue, Christopher P Hess, Jennifer S Yokoyama, Luke W Bonham, Gil D Rabinovici, Bruce L Miller, Ole A Andreassen, Anders M Dale, John Hardy, Rahul S Desikan
Feb 06, 2018
BACKGROUND: Clinical, pathological and genetic overlap between sporadic frontotemporal dementia (FTD), Alzheimer's disease (AD) and Parkinson's disease (PD) has been suggested; however, the relationship between these disorders...
The NHS England 100,000 Genomes Project
Jamie Trotman, Ruth Armstrong, Helen Firth, Claire Trayers, James Watkins, Kieren Allinson, Thomas S Jacques, James C Nicholson, GA Amos Burke, Genomics England Research Consortium, Sam Behjati, Matthew J Murray, Catherine E Hook, Patrick Tarpey
Jul 14, 2022
The International Human Epigenome Consortium
The International Human Epigenome Consortium (IHEC) coordinates the generation of a catalog of high-resolution reference epigenomes of major primary human cell types. The studies now presented (see the Cell Press IHEC web portal...
An integrated national scale SARS-CoV-2 genomic surveillance network.
The Coronavirus Disease 2019 (COVID-19) Genomics UK Consortium (COG-UK) was launched in March, 2020, with £20 million support from UK Research and Innovation, the UK Department of Health and Social Care, and Wellcome Trust. The...
Genomic reconstruction of the SARS-CoV-2 epidemic in England.
Harald S Vöhringer, Theo Sanderson, Matthew Sinnott, Nicola De Maio, Thuy Nguyen, Richard Goater, Frank Schwach, Ian Harrison, Joel Hellewell, Cristina V Ariani, Sonia Gonçalves, David K Jackson, Ian Johnston, Alexander W Jung, Callum Saint, John Sillitoe, Maria Suciu, Nick Goldman, Jasmina Panovska-Griffiths, Wellcome Sanger Institute COVID-19 Surveillance Team, COVID-19 Genomics UK (COG-UK) Consortium*, Ewan Birney, Erik Volz, Sebastian Funk, Dominic Kwiatkowski, Meera Chand, Inigo Martincorena, Jeffrey C Barrett, Moritz Gerstung
Jan 05, 2022
The evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus leads to new variants that warrant timely epidemiological characterization. Here we use the dense genomic surveillance data generated by the...
Genomic reconstruction of the SARS-CoV-2 epidemic in England.
Harald S Vöhringer, Theo Sanderson, Matthew Sinnott, Nicola De Maio, Thuy Nguyen, Richard Goater, Frank Schwach, Ian Harrison, Joel Hellewell, Cristina V Ariani, Sonia Gonçalves, David K Jackson, Ian Johnston, Alexander W Jung, Callum Saint, John Sillitoe, Maria Suciu, Nick Goldman, Jasmina Panovska-Griffiths, Wellcome Sanger Institute COVID-19 Surveillance Team, COVID-19 Genomics UK (COG-UK) Consortium*, Ewan Birney, Erik Volz, Sebastian Funk, Dominic Kwiatkowski, Meera Chand, Inigo Martincorena, Jeffrey C Barrett, Moritz Gerstung
Nov 23, 2021
The evolution of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) virus leads to new variants that warrant timely epidemiological characterization. Here we use the dense genomic surveillance data generated by the...
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Nirmal Vadgama, Alexander Kreymerman, Jackie Campbell, Olga Shamardina, Christiane Brugger, Genomics England Research Consortium, Alexandra M Deaconescu, Richard T Lee, Christopher J Penkett, Casey A Gifford, Mark Mercola, Jamal Nasir, Ioannis Karakikes
Jun 16, 2022
There is considerable variability in the susceptibility and progression for COVID-19 and it appears to be strongly correlated with age, gender, ethnicity and pre-existing health conditions. However, to our knowledge, cohort...
Gene Ontology Consortium
Gene Ontology Consortium
May 06, 2020
The Gene Ontology (GO; http://www.geneontology.org) is a community-based bioinformatics resource that supplies information about gene product function using ontologies to represent biological knowledge. Here we describe...
A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank.
Xueyi Shen, David M Howard, Mark J Adams, W David Hill, Toni-Kim Clarke, Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Ian J Deary, Heather C Whalley, Andrew M McIntosh
May 08, 2021
Depression is a leading cause of worldwide disability but there remains considerable uncertainty regarding its neural and behavioural associations. Here, using non-overlapping Psychiatric Genomics Consortium (PGC) datasets as a...
The genomics of heart failure
R Thomas Lumbers, Sonia Shah, Honghuang Lin, Tomasz Czuba, Albert Henry, Daniel I Swerdlow, Anders Mälarstig, Charlotte Andersson, Niek Verweij, Michael V Holmes, Johan Ärnlöv, Per Svensson, Harry Hemingway, Neneh Sallah, Peter Almgren, Krishna G Aragam, Geraldine Asselin, Joshua D Backman, Mary L Biggs, Heather L Bloom, Eric Boersma, Jeffrey Brandimarto, Michael R Brown, Hans-Peter Brunner-La Rocca, David J Carey, Mark D Chaffin, Daniel I Chasman, Olympe Chazara, Xing Chen, Xu Chen, Jonathan H Chung, William Chutkow, John GF Cleland, James P Cook, Simon de Denus, Abbas Dehghan, Graciela E Delgado, Spiros Denaxas, Alexander S Doney, Marcus Dörr, Samuel C Dudley, Gunnar Engström, Tõnu Esko, Ghazaleh Fatemifar, Stephan B Felix, Chris Finan, Ian Ford, Francoise Fougerousse, René Fouodjio, Mohsen Ghanbari, Sahar Ghasemi, Vilmantas Giedraitis, Franco Giulianini, John S Gottdiener, Stefan Gross, Daníel F Guðbjartsson, Hongsheng Gui, Rebecca Gutmann, Christopher M Haggerty, Pim van der Harst, Åsa K Hedman, Anna Helgadottir, Hans Hillege, Craig L Hyde, Jaison Jacob, J Wouter Jukema, Frederick Kamanu, Isabella Kardys, Maryam Kavousi, Kay-Tee Khaw, Marcus E Kleber, Lars Køber, Andrea Koekemoer, Bill Kraus, Karoline Kuchenbaecker, Claudia Langenberg, Lars Lind, Cecilia M Lindgren, Barry London, Luca A Lotta, Ruth C Lovering, Jian'an Luan, Patrik Magnusson, Anubha Mahajan, Douglas Mann, Kenneth B Margulies, Nicholas A Marston, Winfried März, John JV McMurray, Olle Melander, Giorgio Melloni, Ify R Mordi, Michael P Morley, Andrew D Morris, Andrew P Morris, Alanna C Morrison, Michael W Nagle, Christopher P Nelson, Christopher Newton-Cheh, Alexander Niessner, Teemu Niiranen, Christoph Nowak, Michelle L O'Donoghue, Anjali T Owens, Colin NA Palmer, Guillaume Paré, Markus Perola, Louis-Philippe Lemieux Perreault, Eliana Portilla-Fernandez, Bruce M Psaty, Kenneth M Rice, Paul M Ridker, Simon PR Romaine, Carolina Roselli, Jerome I Rotter, Christian T Ruff, Marc S Sabatine, Perttu Salo, Veikko Salomaa, Jessica van Setten, Alaa A Shalaby, Diane T Smelser, Nicholas L Smith, Kari Stefansson, Steen Stender, David J Stott, Garðar Sveinbjörnsson, Mari-Liis Tammesoo, Jean-Claude Tardif, Kent D Taylor, Maris Teder-Laving, Alexander Teumer, Guðmundur Thorgeirsson, Unnur Thorsteinsdottir, Christian Torp-Pedersen, Stella Trompet, Danny Tuckwell, Benoit Tyl, Andre G Uitterlinden, Felix Vaura, Abirami Veluchamy, Peter M Visscher, Uwe Völker, Adriaan A Voors, Xiaosong Wang, Nicholas J Wareham, Peter E Weeke, Raul Weiss, Harvey D White, Kerri L Wiggins, Heming Xing, Jian Yang, Yifan Yang, Laura M Yerges-Armstrong, Bing Yu, Faiez Zannad, Faye Zhao, Regeneron Genetics Center, Jemma B Wilk, Hilma Holm, Naveed Sattar, Steven A Lubitz, David E Lanfear, Svati Shah, Michael E Dunn, Quinn S Wells, Folkert W Asselbergs, Aroon D Hingorani, Marie-Pierre Dubé, Nilesh J Samani, Chim C Lang, Thomas P Cappola, Patrick T Ellinor, Ramachandran S Vasan, J Gustav Smith
Sep 20, 2021
AIMS: The HERMES (HEart failure Molecular Epidemiology for Therapeutic targetS) consortium aims to identify the genomic and molecular basis of heart failure. METHODS AND RESULTS: The consortium currently includes 51 studies from...
ImmUniverse Consortium
Stefania Vetrano, Gerben Bouma, Robert J Benschop, Thomas Birngruber, Antonio Costanzo, GRAM D'Haens, Loredana Frasca, Rainer Hillenbrand, Lars Iversen, Claus Johansen, Arthur Kaser, Hans JPM Koenen, Christa Noehammer, Laurent Peyrin-Biroulet, Jeroen Raes, Leonardo Ricotti, Philip Rosenstiel, Venkata P Satagopam, Stefan Schreiber, Severine Vermeire, Andreas Wollenberg, Stephan Weidinger, Daniel Ziemek, Silvio Danese, ImmUniverse Consortium
Jan 04, 2023
Immune mediated inflammatory diseases (IMIDs) are a heterogeneous group of debilitating, multifactorial and unrelated conditions featured by a dysregulated immune response leading to destructive chronic inflammation. The immune...
Multilocus Inherited Neoplasia Allele Syndrome (MINAS)
Anthony McGuigan, James Whitworth, Avgi Andreou, Timothy Hearn, Genomics England Research Consortium, Marc Tischkowitz, Eamonn R Maher
Mar 09, 2022
SARS-CoV-2 Susceptibility and ACE2 Gene Variations Within Diverse Ethnic Backgrounds.
Nirmal Vadgama, Alexander Kreymerman, Jackie Campbell, Olga Shamardina, Christiane Brugger, Genomics England Research Consortium, Alexandra M Deaconescu, Richard T Lee, Christopher J Penkett, Casey A Gifford, Mark Mercola, Jamal Nasir, Ioannis Karakikes
May 11, 2022
There is considerable variability in the susceptibility and progression for COVID-19 and it appears to be strongly correlated with age, gender, ethnicity and pre-existing health conditions. However, to our knowledge, cohort...
A comparative genomics multitool for scientific discovery and conservation.
Zoonomia Consortium
Dec 24, 2020
The Zoonomia Project is investigating the genomics of shared and specialized traits in eutherian mammals. Here we provide genome assemblies for 131 species, of which all but 9 are previously uncharacterized, and describe a...
Animals Biodiversity Biomedical Research Conservation of Natural Resources Eutheria evolution Molecular Extinction Biological Genetic Speciation genetic variation Genomics Humans Infections Knowledge Discovery Loss of Heterozygosity Neoplasms Phylogeny Risk Assessment selection Genetic Sequence Alignment Species Specificity Venoms
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
The SPECTRUM Consortium
M Horton, PR Perman-Howe, C Angus, J Bishop, I Bogdanovica, A Brennan, J Britton, LS Brose, J Brown, J Collin, M Dockrell, N Fitzgerald, S Friel, D Gillespie, AB Gilmore, SE Hill, C Knai, T Langley, S Martin, A McNeill, G Moore, MR Munafò, RL Murray, M Opazo Breton, J Pearce, M Petticrew, G Reid, D Robson, H Rutter, L Shahab, N Shortt, K Smith, K Syrett, L Bauld
Dec 31, 2021
The main causes of non-communicable diseases (NCDs), health inequalities and health inequity include consumption of unhealthy commodities such as tobacco, alcohol and/or foods high in fat, salt and/or sugar. These exposures...
Alcohol Commercial determinants Inequalities Non-communicable disease Policy Prevention Public Health Tobacco Unhealthy commodities /dk/atira/pure/subjectarea/asjc/2700/2701 name=Medicine (miscellaneous) /dk/atira/pure/subjectarea/asjc/1300/1300 name=General Biochemistry,Genetics and Molecular Biology /dk/atira/pure/sustainabledevelopmentgoals/good_health_and_well_being name=SDG 3 - Good Health and Well-being
Modifiable pathways in Alzheimer's disease
Susanna C Larsson, Matthew Traylor, Rainer Malik, Martin Dichgans, Stephen Burgess, Hugh S Markus, on behalf of the International Genomics of Alzheimer’s Project CoSTREAM Consortium
Mar 07, 2018
OBJECTIVE: To determine which potentially modifiable risk factors, including socioeconomic, lifestyle/dietary, cardiometabolic, and inflammatory factors, are associated with Alzheimer's disease. DESIGN: Mendelian randomisation...
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management.
Karan R Chadda, Katherine Holland, Daniel Scoffings, Andrew Dean, Jessica C Pickles, Sam Behjati, Thomas S Jacques, Jamie Trotman, Patrick Tarpey, Kieren Allinson, Matthew J Murray, Genomics England Research Consortium
Feb 04, 2021
Association of Smoking, Alcohol Consumption, Blood Pressure, Body Mass Index, and Glycemic Risk Factors With Age-Related Macular Degeneration
Valerie Kuan, Alasdair Warwick, Aroon Hingorani, Adnan Tufail, Valentina Cipriani, Stephen Burgess, Reecha Sofat, International AMD Genomics Consortium (IAMDGC)
Nov 05, 2021
IMPORTANCE: Advanced age-related macular degeneration (AMD) is a leading cause of blindness in Western countries. Causal, modifiable risk factors need to be identified to develop preventive measures for advanced AMD. OBJECTIVE...
Genetic and chemotherapeutic influences on germline hypermutation.
Joanna Kaplanis, Benjamin Ide, Rashesh Sanghvi, Matthew Neville, Petr Danecek, Tim Coorens, Elena Prigmore, Patrick Short, Giuseppe Gallone, Jeremy McRae, Genomics England Research Consortium, Jenny Carmichael, Angela Barnicoat, Helen Firth, Patrick O'Brien, Raheleh Rahbari, Matthew Hurles
Jun 11, 2022
Actinobacillus pleuropneumoniae serovar 8 predominates in England and Wales
Y Li, JT Bossé, SM Williamson, DJ Maskell, AW Tucker, BW Wren, AN Rycroft, PR Langford, BRaDP1T Consortium
Feb 14, 2017
This work was supported by a Longer and Larger (LoLa) grant from the Biotechnology and Biological Sciences Research Council (BBSRC grant numbers BB/G020744/1, BB/G019177/1, BB/G019274/1 and BB/G018553/1) and Zoetis (formerly...
Stability Analysis of EPC Consortium Cooperation Based on Evolutionary Game
Consortium contracting is a contracting model that China encourages and advocates. Due to the interest drive, members within the consortium are very prone to negative cooperation and midway withdrawal, which hinders the healthy...
Published by: IGI Global Scientific Publishing
The Typhoid Vaccine Acceleration Consortium (TyVAC): Vaccine effectiveness study designs
Typhoid fever is estimated to cause between 11.9-26.9 million infections globally each year with 129,000-216,510 deaths. Access to improved water sources have reduced disease incidence in parts of the world but the use of...
Targeting de novo loss-of-function variants in constrained disease genes improves diagnostic rates in the 100,000 Genomes Project.
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