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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...
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...
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...
Milk intake and incident stroke and CHD in populations of European descent
LET Vissers, I Sluijs, S Burgess, NG Forouhi, H Freisling, F Imamura, TK Nilsson, F Renström, E Weiderpass, K Aleksandrova, CC Dahm, A Perez-Cornago, MB Schulze, TYN Tong, D Aune, C Bonet, JMA Boer, H Boeing, MD Chirlaque, MI Conchi, L Imaz, S Jäger, V Krogh, C Kyrø, G Masala, O Melander, K Overvad, S Panico, MJ Sánches, E Sonestedt, A Tjønneland, I Tzoulaki, WMM Verschuren, E Riboli, NJ Wareham, J Danesh, AS Butterworth, YT van der Schouw
Oct 28, 2021
Higher milk intake has been associated with a lower stroke risk, but not with risk of CHD. Residual confounding or reverse causation cannot be excluded. Therefore, we estimated the causal association of milk consumption with...
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...
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...
Association of Rare and Common Variation in the Lipoprotein Lipase Gene With Coronary Artery Disease.
Amit V Khera, Hong-Hee Won, Gina M Peloso, Colm O'Dushlaine, Dajiang Liu, Nathan O Stitziel, Pradeep Natarajan, Akihiro Nomura, Connor A Emdin, Namrata Gupta, Ingrid B Borecki, Rosanna Asselta, Stefano Duga, Piera Angelica Merlini, Adolfo Correa, Thorsten Kessler, James G Wilson, Matthew J Bown, Alistair S Hall, Peter S Braund, David J Carey, Michael F Murray, H Lester Kirchner, Joseph B Leader, Daniel R Lavage, J Neil Manus, Dustin N Hartzel, Nilesh J Samani, Heribert Schunkert, Jaume Marrugat, Roberto Elosua, Ruth McPherson, Martin Farrall, Hugh Watkins, Eric S Lander, Daniel J Rader, John Danesh, Diego Ardissino, Stacey Gabriel, Cristen Willer, Gonçalo R Abecasis, Danish Saleheen, Frederick E Dewey, Sekar Kathiresan, DiscovEHR Study Group, CARDIoGRAM Exome Consortium, and Global Lipids Genetics Consortium Myocardial Infarction Genetics Consortium
Jun 25, 2018
IMPORTANCE: The activity of lipoprotein lipase (LPL) is the rate-determining step in clearing triglyceride-rich lipoproteins from the circulation. Mutations that damage the LPL gene (LPL) lead to lifelong deficiency in enzymatic...
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...
Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Keiji Fukuda, Direk Limmathurotsakul, Iruka N Okeke, Nandini Shetty, Rogier van Doorn, Nicholas A Feasey, Francesca Chiara, Ghada Zoubiane, Tim Jinks, Julian Parkhill, Jean Patel, Stuart WJ Reid, Alison H Holmes, Sharon J Peacock, Surveillance and Epidemiology of Drug Resistant Infections Consortium (SEDRIC)
Nov 05, 2018
In recognition of the central importance of surveillance and epidemiology in the control of antimicrobial resistance and the need to strengthen surveillance at all levels, Wellcome has brought together a new international expert...
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
Genome-wide meta-analysis identifies 3 novel loci associated with stroke.
Rainer Malik, Kristiina Rannikmäe, Matthew Traylor, Marios K Georgakis, Muralidharan Sargurupremraj, Hugh S Markus, Jemma C Hopewell, Stephanie Debette, Cathie LM Sudlow, Martin Dichgans, MEGASTROKE consortium and the International Stroke Genetics Consortium
Dec 21, 2018
We conducted a European-only and transancestral genome-wide association meta-analysis in 72,147 stroke patients and 823,869 controls using data from UK Biobank (UKB) and the MEGASTROKE consortium. We identified an exonic...
Retrospective evaluation of whole exome and genome mutation calls in 746 cancer samples.
Matthew H Bailey, William U Meyerson, Lewis Jonathan Dursi, Liang-Bo Wang, Guanlan Dong, Wen-Wei Liang, Amila Weerasinghe, Shantao Li, Yize Li, Sean Kelso, MC3 Working Group, PCAWG novel somatic mutation calling methods working group, Gordon Saksena, Kyle Ellrott, Michael C Wendl, David A Wheeler, Gad Getz, Jared T Simpson, Mark B Gerstein, Li Ding, PCAWG Consortium
Oct 12, 2020
The Cancer Genome Atlas (TCGA) and International Cancer Genome Consortium (ICGC) curated consensus somatic mutation calls using whole exome sequencing (WES) and whole genome sequencing (WGS), respectively. Here, as part of the...
Proposing a Library Consortium Model for National Development in Zimbabwe
Collence Chisita
Jul 01, 2021
Globally library cooperation and collaboration is transforming the scholarship landscape as academic libraries battle to survive amidst escalating costs of subscriptions. Zimbabwe is no exception to this phenomenon as evidenced...
Published by: IGI Global Scientific Publishing
Meningococcal carriage in the African meningitis belt.
MenAfriCar consortium
Jan 23, 2018
A meningococcal serogroup A polysaccharide/tetanus toxoid conjugate vaccine (PsA-TT) (MenAfriVac(™) ) is being deployed in countries of the African meningitis belt. Experience with other polysaccharide/protein conjugate vaccines...
Africa MenAfriCar Neisseria meningitidis meningococcal carriage Meningococcal Vaccines meningococcus Adolescent Adult Africa Carrier State Child Child Preschool Cross-Sectional Studies Enzyme-Linked Immunosorbent Assay Epidemics Humans Immunization Programs Infant International Cooperation Meningitis Meningococcal Meningococcal Vaccines Neisseria meningitidis Serogroup A Pharynx Pilot Projects Polymerase Chain Reaction Program Evaluation Specimen Handling vaccines Conjugate Young Adult
ICC-dementia (International Centenarian Consortium - dementia)
Henry Brodaty, Claudia Woolf, Stacy Andersen, Nir Barzilai, Carol Brayne, Karen Siu-Lan Cheung, Maria M Corrada, John D Crawford, Catriona Daly, Yasuyuki Gondo, Bo Hagberg, Nobuyoshi Hirose, Henne Holstege, Claudia Kawas, Jeffrey Kaye, Nicole A Kochan, Bobo Hi-Po Lau, Ugo Lucca, Gabriella Marcon, Peter Martin, Leonard W Poon, Robyn Richmond, Jean-Marie Robine, Ingmar Skoog, Melissa J Slavin, Jan Szewieczek, Mauro Tettamanti, José Viña, Thomas Perls, Perminder S Sachdev
Sep 29, 2016
BACKGROUND: Considerable variability exists in international prevalence and incidence estimates of dementia. The accuracy of estimates of dementia in the oldest-old and the controversial question of whether dementia incidence...
Mendelian Randomisation study of the influence of eGFR on coronary heart disease.
Pimphen Charoen, Dorothea Nitsch, Jorgen Engmann, Tina Shah, Jonathan White, Delilah Zabaneh, Barbara Jefferis, Goya Wannamethee, Peter Whincup, Amy Mulick Cassidy, Tom Gaunt, Ian Day, Stela McLachlan, Jacqueline Price, Meena Kumari, Mika Kivimaki, Eric Brunner, Claudia Langenberg, Yoav Ben-Shlomo, Aroon Hingorani, John Whittaker, Juan Pablo Casas, Frank Dudbridge, UCLEB Consortium
Sep 09, 2016
Impaired kidney function, as measured by reduced estimated glomerular filtration rate (eGFR), has been associated with increased risk of coronary heart disease (CHD) in observational studies, but it is unclear whether this...
Association of LPA Variants With Risk of Coronary Disease and the Implications for Lipoprotein(a)-Lowering Therapies
Stephen Burgess, Brian A Ference, James R Staley, Daniel F Freitag, Amy M Mason, Sune F Nielsen, Peter Willeit, Robin Young, Praveen Surendran, Savita Karthikeyan, Thomas R Bolton, James E Peters, Pia R Kamstrup, Anne Tybjaerg-Hansen, Marianne Benn, Anne Langsted, Peter Schnohr, Signe Vedel-Krogh, Camilla J Kobylecki, Ian Ford, Chris Packard, Stella Trompet, J Wouter Jukema, Naveed Sattar, Emanuele Di Angelantonio, Danish Saleheen, Joanna MM Howson, Børge G Nordestgaard, Adam S Butterworth, John Danesh, European Prospective Investigation Into Cancer and Nutrition–Cardiovascular Disease (EPIC-CVD) Consortium
Sep 27, 2018
IMPORTANCE: Human genetic studies have indicated that plasma lipoprotein(a) (Lp[a]) is causally associated with the risk of coronary heart disease (CHD), but randomized trials of several therapies that reduce Lp(a) levels by 25%...
A Bayesian Approach to the Overlap Analysis of Epidemiologically Linked Traits.
Jennifer L Asimit, Kalliope Panoutsopoulou, Eleanor Wheeler, Sonja I Berndt, the arcOGEN consortium GIANT consortium, Heather J Cordell, Andrew P Morris, Eleftheria Zeggini, Inês Barroso
Aug 15, 2018
Diseases often cooccur in individuals more often than expected by chance, and may be explained by shared underlying genetic etiology. A common approach to genetic overlap analyses is to use summary genome-wide association study...
Bayes’ factor P-value obesity Osteoarthritis overlap analysis threshold calibration Bayes Theorem Body Mass Index Computer Simulation Data Interpretation Statistical Genome-Wide Association Study Humans Models Genetic obesity Osteoarthritis Phenotype Polymorphism Single Nucleotide Probability Quantitative Trait Heritable Sample Size
A data-driven model of brain volume changes in progressive supranuclear palsy.
WJ Scotton, M Bocchetta, E Todd, DM Cash, N Oxtoby, L VandeVrede, H Heuer, 4RTNI Consortium PROSPECT Consortium, DC Alexander, JB Rowe, HR Morris, A Boxer, JD Rohrer, PA Wijeratne
Jun 29, 2022
The most common clinical phenotype of progressive supranuclear palsy is Richardson syndrome, characterized by levodopa unresponsive symmetric parkinsonism, with a vertical supranuclear gaze palsy, early falls and cognitive...
Sex differences in oncogenic mutational processes.
Constance H Li, Stephenie D Prokopec, Ren X Sun, Fouad Yousif, Nathaniel Schmitz, PCAWG Tumour Subtypes and Clinical Translation, Paul C Boutros, PCAWG Consortium
Sep 11, 2020
Sex differences have been observed in multiple facets of cancer epidemiology, treatment and biology, and in most cancers outside the sex organs. Efforts to link these clinical differences to specific molecular features have...
Height, selected genetic markers and prostate cancer risk
Artitaya Lophatananon, Sarah Stewart-Brown, Zsofia Kote-Jarai, Ali Amin Al Olama, Sara Benlloch Garcia, David E Neal, Freddie C Hamdy, Jenny L Donovan, Graham G Giles, Liesel M Fitzgerald, Melissa C Southey, Paul Pharoah, Nora Pashayan, Henrik Gronberg, Fredrik Wiklund, Markus Aly, Janet L Stanford, Hermann Brenner, Aida K Dieffenbach, Volker Arndt, Jong Y Park, Hui-Yi Lin, Thomas Sellers, Chavdar Slavov, Radka Kaneva, Vanio Mitev, Jyotsna Batra, Amanda Spurdle, Judith A Clements, APCB BioResource, PRACTICAL Consortium, Douglas Easton, Rosalind A Eeles, Kenneth Muir
Dec 08, 2017
BACKGROUND: Evidence on height and prostate cancer risk is mixed, however, recent studies with large data sets support a possible role for its association with the risk of aggressive prostate cancer. METHODS: We analysed data...
Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22.
Katherine E Beaney, Andrew JP Smith, Lasse Folkersen, Jutta Palmen, S Goya Wannamethee, Barbara J Jefferis, Peter Whincup, Tom R Gaunt, Juan P Casas, Yoav Ben-Shlomo, Jacqueline F Price, Meena Kumari, Andrew Wong, Ken Ong, Rebecca Hardy, Diana Kuh, Nicholas Wareham, Mika Kivimaki, Per Eriksson, Steve E Humphries, Ucleb Consortium
Aug 16, 2017
Background. The coronary heart disease (CHD) risk locus on 21q22 (lead SNP rs9982601) lies within a "gene desert." The aim of this study was to assess if this locus is associated with CHD risk factors and to identify the...
Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes
BP Prins, A Abbasi, A Wong, A Vaez, I Nolte, N Franceschini, PE Stuart, J Guterriez Achury, V Mistry, JP Bradfield, AM Valdes, J Bras, A Shatunov, PAGE Consortium, International Stroke Genetics Consortium, Systemic Sclerosis consortium, Treat OA consortium, DIAGRAM Consortium, CARDIoGRAMplusC4D Consortium, ALS consortium, International Parkinson’s Disease Genomics Consortium, Autism Spectrum Disorder Working Group of the Psychiatric Genomics Consortium, CKDGen consortium, GERAD1 Consortium, International Consortium for Blood Pressure, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Inflammation Working Group of the CHARGE Consortium, C Lu, B Han, S Raychaudhuri, S Bevan, MD Mayes, LC Tsoi, E Evangelou, RP Nair, SFA Grant, C Polychronakos, TRD Radstake, DA van Heel, ML Dunstan, NW Wood, A Al-Chalabi, A Dehghan, H Hakonarson, HS Markus, JT Elder, J Knight, DE Arking, TD Spector, BPC Koeleman, CM van Duijn, J Martin, AP Morris, RK Weersma, C Wijmenga, PB Munroe, JRB Perry, JG Pouget, Y Jamshidi, H Snieder, BZ Alizadeh
Jan 30, 2017
BACKGROUND: C-reactive protein (CRP) is associated with immune, cardiometabolic, and psychiatric traits and diseases. Yet it is inconclusive whether these associations are causal. METHODS AND FINDINGS: We performed Mendelian...
Investigation of gene-diet interactions in the incretin system and risk of type 2 diabetes
InterAct Consortium
Sep 06, 2019
AIMS/HYPOTHESIS: The gut incretin hormones glucagon-like peptide-1 (GLP-1) and glucose-dependent insulinotropic peptide (GIP) have a major role in the pathophysiology of type 2 diabetes. Specific genetic and dietary factors have...
Coffee dairy Fibre GIPR Gene–environment interaction Incretins KCNQ1 Olive Oil TCF7L2 WFS1 Alleles Case-Control Studies Coffee Diabetes mellitus Type 2 Diet Dietary Fiber Female Gastric Inhibitory Polypeptide Humans Incretins KCNQ1 Potassium Channel Male Membrane Proteins Middle Aged Olive Oil Proportional Hazards Models Transcription Factor 7-Like 2 Protein
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.
Alejandro Sifrim, Marc-Phillip Hitz, Anna Wilsdon, Jeroen Breckpot, Saeed H Al Turki, Bernard Thienpont, Jeremy McRae, Tomas W Fitzgerald, Tarjinder Singh, Ganesh Jawahar Swaminathan, Elena Prigmore, Diana Rajan, Hashim Abdul-Khaliq, Siddharth Banka, Ulrike MM Bauer, Jamie Bentham, Felix Berger, Shoumo Bhattacharya, Frances Bu'Lock, Natalie Canham, Irina-Gabriela Colgiu, Catherine Cosgrove, Helen Cox, Ingo Daehnert, Allan Daly, John Danesh, Alan Fryer, Marc Gewillig, Emma Hobson, Kirstin Hoff, Tessa Homfray, INTERVAL Study, Anne-Karin Kahlert, Ami Ketley, Hans-Heiner Kramer, Katherine Lachlan, Anne Katrin Lampe, Jacoba J Louw, Ashok Kumar Manickara, Dorin Manase, Karen P McCarthy, Kay Metcalfe, Carmel Moore, Ruth Newbury-Ecob, Seham Osman Omer, Willem H Ouwehand, Soo-Mi Park, Michael J Parker, Thomas Pickardt, Martin O Pollard, Leema Robert, David J Roberts, Jennifer Sambrook, Kerry Setchfield, Brigitte Stiller, Chris Thornborough, Okan Toka, Hugh Watkins, Denise Williams, Michael Wright, Seema Mital, Piers EF Daubeney, Bernard Keavney, Judith Goodship, UK10K consortium, Riyadh Mahdi Abu-Sulaiman, Sabine Klaassen, Caroline F Wright, Helen V Firth, Jeffrey C Barrett, Koenraad Devriendt, David R FitzPatrick, J David Brook, Deciphering Developmental Disorders Study, Matthew E Hurles
Nov 20, 2017
Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable...
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