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Results: 15498
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
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...
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...
Spectrum of mutational signatures in T-cell lymphoma reveals a key role for UV radiation in cutaneous T-cell lymphoma.
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...
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
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
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...
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 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
Sep 21, 2021
Published by: Neuropathology and Applied Neurobiology
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...
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
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...
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
May 18, 2022
Mutations in the germline generates all evolutionary genetic variation and is a cause of genetic disease. Parental age is the primary determinant of the number of new germline mutations in an individual's genome1,2. Here we...
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E Dobbins, Li Ling Lee, Lipoedema Consortium, Genomics England Research Consortium, Steve Jeffery, Liang Dong, David B Savage, Peter S Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Nov 16, 2022
Harmonising electronic health records for reproducible research
Hoda Abbasizanjani, Fatemeh Torabi, Stuart Bedston, Thomas Bolton, Gareth Davies, Spiros Denaxas, Rowena Griffiths, Laura Herbert, Sam Hollings, Spencer Keene, Kamlesh Khunti, Emily Lowthian, Jane Lyons, Mehrdad A Mizani, John Nolan, Cathie Sudlow, Venexia Walker, William Whiteley, Angela Wood, Ashley Akbari, CVD-COVID-UK/COVID-IMPACT Consortium
Feb 17, 2023
BACKGROUND: The CVD-COVID-UK consortium was formed to understand the relationship between COVID-19 and cardiovascular diseases through analyses of harmonised electronic health records (EHRs) across the four UK nations. Beyond...
Harmonising electronic health records for reproducible research
Hoda Abbasizanjani, Fatemeh Torabi, Stuart Bedston, Thomas Bolton, Gareth Davies, Spiros Denaxas, Rowena Griffiths, Laura Herbert, Sam Hollings, Spencer Keene, Kamlesh Khunti, Emily Lowthian, Jane Lyons, Mehrdad A Mizani, John Nolan, Cathie Sudlow, Venexia Walker, William Whiteley, Angela Wood, Ashley Akbari, CVD-COVID-UK/COVID-IMPACT Consortium
Jan 16, 2023
BACKGROUND: The CVD-COVID-UK consortium was formed to understand the relationship between COVID-19 and cardiovascular diseases through analyses of harmonised electronic health records (EHRs) across the four UK nations. Beyond...
Investigation of clinical characteristics and genome associations in the 'UK Lipoedema' cohort.
Dionysios Grigoriadis, Ege Sackey, Katie Riches, Malou van Zanten, Glen Brice, Ruth England, Mike Mills, Sara E Dobbins, Li Ling Lee, Lipoedema Consortium, Genomics England Research Consortium, Steve Jeffery, Liang Dong, David B Savage, Peter S Mortimer, Vaughan Keeley, Alan Pittman, Kristiana Gordon, Pia Ostergaard
Oct 13, 2022
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
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...
SSBP1-Disease Update
Neringa Jurkute, Fabiana D'Esposito, Anthony G Robson, Robert DS Pitceathly, Francesca Cordeiro, F Lucy Raymond, Anthony T Moore, Michel Michaelides, Patrick Yu-Wai-Man, Andrew R Webster, Gavin Arno, Genomics England Research Consortium
Jan 28, 2022
Adolescent Amino Acid Sequence Child Preschool DNA Mitochondrial DNA-Binding Proteins Electroretinography Female Genes Recessive Genotyping Techniques Humans Male Middle Aged Mitochondrial Diseases Mitochondrial Proteins Molecular Conformation Molecular Sequence Data Mutation Missense Optic Atrophy Pedigree Penetrance Protein Stability Protein Structure Quaternary Retinal Dystrophies whole genome sequencing
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