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Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings, Taru Tukiainen, Daniel P Birnbaum, Jack A Kosmicki, Laramie E Duncan, Karol Estrada, Fengmei Zhao, James Zou, Emma Pierce-Hoffman, Joanne Berghout, David N Cooper, Nicole Deflaux, Mark DePristo, Ron Do, Jason Flannick, Menachem Fromer, Laura Gauthier, Jackie Goldstein, Namrata Gupta, Daniel Howrigan, Adam Kiezun, Mitja I Kurki, Ami Levy Moonshine, Pradeep Natarajan, Lorena Orozco, Gina M Peloso, Ryan Poplin, Manuel A Rivas, Valentin Ruano-Rubio, Samuel A Rose, Douglas M Ruderfer, Khalid Shakir, Peter D Stenson, Christine Stevens, Brett P Thomas, Grace Tiao, Maria T Tusie-Luna, Ben Weisburd, Hong-Hee Won, Dongmei Yu, David M Altshuler, Diego Ardissino, Michael Boehnke, John Danesh, Stacey Donnelly, Roberto Elosua, Jose C Florez, Stacey B Gabriel, Gad Getz, Stephen J Glatt, Christina M Hultman, Sekar Kathiresan, Markku Laakso, Steven McCarroll, Mark I McCarthy, Dermot McGovern, Ruth McPherson, Benjamin M Neale, Aarno Palotie, Shaun M Purcell, Danish Saleheen, Jeremiah M Scharf, Pamela Sklar, Patrick F Sullivan, Jaakko Tuomilehto, Ming T Tsuang, Hugh C Watkins, James G Wilson, Mark J Daly, Daniel G MacArthur, Exome Aggregation Consortium
Jan 11, 2018
Large-scale reference data sets of human genetic variation are critical for the medical and functional interpretation of DNA sequence changes. Here we describe the aggregation and analysis of high-quality exome (protein-coding...
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...
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...
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...
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 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
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...
Meta-analysis identifies common and rare variants influencing blood pressure and overlapping with metabolic trait loci.
Chunyu Liu, Aldi T Kraja, Jennifer A Smith, Jennifer A Brody, Nora Franceschini, Joshua C Bis, Kenneth Rice, Alanna C Morrison, Yingchang Lu, Stefan Weiss, Xiuqing Guo, Walter Palmas, Lisa W Martin, Yii-Der Ida Chen, Praveen Surendran, Fotios Drenos, James P Cook, Paul L Auer, Audrey Y Chu, Ayush Giri, Wei Zhao, Johanna Jakobsdottir, Li-An Lin, Jeanette M Stafford, Najaf Amin, Hao Mei, Jie Yao, Arend Voorman, CHD Exome+ Consortium, ExomeBP Consortium, GoT2DGenes Consortium, T2D-GENES Consortium, Martin G Larson, Megan L Grove, Albert V Smith, Shih-Jen Hwang, Han Chen, Tianxiao Huan, Gulum Kosova, Nathan O Stitziel, Sekar Kathiresan, Nilesh Samani, Heribert Schunkert, Panos Deloukas, Myocardial Infarction Genetics and CARDIoGRAM Exome Consortia, Man Li, Christian Fuchsberger, Cristian Pattaro, Mathias Gorski, CKDGen consortium, Charles Kooperberg, George J Papanicolaou, Jacques E Rossouw, Jessica D Faul, Sharon LR Kardia, Claude Bouchard, Leslie J Raffel, André G Uitterlinden, Oscar H Franco, Ramachandran S Vasan, Christopher J O'Donnell, Kent D Taylor, Kiang Liu, Erwin P Bottinger, Omri Gottesman, E Warwick Daw, Franco Giulianini, Santhi Ganesh, Elias Salfati, Tamara B Harris, Lenore J Launer, Marcus Dörr, Stephan B Felix, Rainer Rettig, Henry Völzke, Eric Kim, Wen-Jane Lee, I-Te Lee, Wayne H-H Sheu, Krystal S Tsosie, Digna R Velez Edwards, Yongmei Liu, Adolfo Correa, David R Weir, Uwe Völker, Paul M Ridker, Eric Boerwinkle, Vilmundur Gudnason, Alexander P Reiner, Cornelia M van Duijn, Ingrid B Borecki, Todd L Edwards, Aravinda Chakravarti, Jerome I Rotter, Bruce M Psaty, Ruth JF Loos, Myriam Fornage, Georg B Ehret, Christopher Newton-Cheh, Daniel Levy, Daniel I Chasman
Nov 20, 2017
Meta-analyses of association results for blood pressure using exome-centric single-variant and gene-based tests identified 31 new loci in a discovery stage among 146,562 individuals, with follow-up and meta-analysis in 180,726...
Meta-analysis and multidisciplinary consensus statement
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock, Han Brunner, Ny Hoang, Stephen W Scherer, Mustafa Sahin, David T Miller, NDD Exome Scoping Review Work
Group
Feb 12, 2021
PURPOSE: For neurodevelopmental disorders (NDDs), etiological evaluation can be a diagnostic odyssey involving numerous genetic tests, underscoring the need to develop a streamlined algorithm maximizing molecular diagnostic...
Cross-temporal aggregation
Achieving high accuracy in energy consumption forecasting is critical for improving energy management and planning. However, this requires the selection of appropriate forecasting models, able to capture the individual...
Electricity consumption Exponential smoothing hierarchical forecasting Seasonality shrinkage Temporal aggregation sustainability /dk/atira/pure/subjectarea/asjc/2200/2215 name=Building and Construction /dk/atira/pure/subjectarea/asjc/2100/2100 name=General Energy /dk/atira/pure/subjectarea/asjc/2200/2210 name=Mechanical Engineering /dk/atira/pure/subjectarea/asjc/2300/2308 name=Management, Monitoring, Policy and Law /dk/atira/pure/sustainabledevelopmentgoals/affordable_and_clean_energy name=SDG 7 - Affordable and Clean Energy
Cross-temporal aggregation
Achieving high accuracy in energy consumption forecasting is critical for improving energy management and planning. However, this requires the selection of appropriate forecasting models, able to capture the individual...
Electricity consumption Exponential smoothing hierarchical forecasting Seasonality shrinkage Temporal aggregation sustainability /dk/atira/pure/subjectarea/asjc/2200/2215 name=Building and Construction /dk/atira/pure/subjectarea/asjc/2100/2100 name=General Energy /dk/atira/pure/subjectarea/asjc/2200/2210 name=Mechanical Engineering /dk/atira/pure/subjectarea/asjc/2300/2308 name=Management, Monitoring, Policy and Law /dk/atira/pure/sustainabledevelopmentgoals/affordable_and_clean_energy name=SDG 7 - Affordable and Clean Energy
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
Universality of filamentous aggregation phenomena.
We use perturbative renormalization group theory to study the kinetics of protein aggregation phenomena in a unified manner across multiple timescales. Using this approach, we find that, irrespective of the specific molecular...
p.Val804Met, the Most Frequent Pathogenic Mutation in RET, Confers a Very Low Lifetime Risk of Medullary Thyroid Cancer.
Chey Loveday, Katherine Josephs, Daniel Chubb, Adam Gunning, Louise Izatt, Marc Tischkowitz, Sian Ellard, Clare Turnbull
Jun 11, 2018
CONTEXT: To date, penetrance figures for medullary thyroid cancer (MTC) for variants in rearranged during transfection (RET) have been estimated from families ascertained because of the presence of MTC. OBJECTIVE: To gain...
Adult Aged Carcinoma Neuroendocrine Databases Genetic Datasets as Topic Endocrinology Female Gene Frequency Humans Male Middle Aged Multiple Endocrine Neoplasia Type 2a Penetrance Polymorphism Single Nucleotide Practice Guidelines as Topic Prophylactic Surgical Procedures Proto-Oncogene Proteins c-ret Risk Assessment Societies Medical Thyroid Neoplasms Thyroidectomy United States Exome Sequencing
Cytosolic aggregation of mitochondrial proteins disrupts cellular homeostasis by stimulating the aggregation of other proteins.
Urszula Nowicka, Piotr Chroscicki, Karen Stroobants, Maria Sladowska, Michal Turek, Barbara Uszczynska-Ratajczak, Rishika Kundra, Tomasz Goral, Michele Perni, Christopher M Dobson, Michele Vendruscolo, Agnieszka Chacinska
Oct 18, 2021
Mitochondria are organelles with their own genomes, but they rely on the import of nuclear-encoded proteins that are translated by cytosolic ribosomes. Therefore, it is important to understand whether failures in the...
C. elegans S. cerevisiae AGGREGATION Biochemistry chaperones chemical biology Homeostasis metastable proteins Mitochondria neurodegeneration Alzheimer Disease Animals Caenorhabditis elegans Caenorhabditis elegans Proteins Cytosol Databases Genetic HEAT-SHOCK PROTEINS Humans Mitochondria Mitochondrial Proteins Molecular Chaperones Protein Aggregates Protein Transport Proteostasis Saccharomyces cerevisiae Saccharomyces cerevisiae Proteins
Complexity in Lipid Membrane Composition Induces Resilience to Aβ42 Aggregation.
Michele Sanguanini, Kevin N Baumann, Swapan Preet, Sean Chia, Johnny Habchi, Tuomas PJ Knowles, Michele Vendruscolo
Mar 30, 2020
The molecular origins of Alzheimer's disease are associated with the aggregation of the amyloid-β peptide (Aβ). This process is controlled by a complex cellular homeostasis system, which involves a variety of components...
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Gaëlle Marenne, Audrey E Hendricks, Aliki Perdikari, Rebecca Bounds, Felicity Payne, Julia M Keogh, Christopher J Lelliott, Elana Henning, Saad Pathan, Sofie Ashford, Elena G Bochukova, Vanisha Mistry, Allan Daly, Caroline Hayward, UK10K Consortium INTERVAL, Nicholas J Wareham, Stephen O'Rahilly, Claudia Langenberg, Eleanor Wheeler, Eleftheria Zeggini, I Sadaf Farooqi, Inês Barroso
Jan 15, 2021
Obesity is genetically heterogeneous with monogenic and complex polygenic forms. Using exome and targeted sequencing in 2,737 severely obese cases and 6,704 controls, we identified three genes (PHIP, DGKI, and ZMYM4) with an...
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...
Decreased Water Mobility Contributes To Increased α‐Synuclein Aggregation**
Amberley D Stephens, Johanna Kölbel, Rani Moons, Chyi Wei Chung, Michael T Ruggiero, Najet Mahmoudi, Talia A Shmool, Thomas M McCoy, Daniel Nietlispach, Alexander F Routh, Frank Sobott, J Axel Zeitler, Gabriele S Kaminski Schierle
Jan 12, 2023
The solvation shell is essential for the folding and function of proteins, but how it contributes to protein misfolding and aggregation has still to be elucidated. We show that the mobility of solvation shell H2O molecules...
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
Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton, Konstantinos Douroudis, Gerald Pfeffer, Mauro Santibanez-Koref, Gail Eglon, Patrick Yu-Wai-Man, Venkateswaran Ramesh, Rita Horvath, Patrick F Chinnery
Mar 07, 2019
Inherited ataxias are clinically and genetically heterogeneous, and a molecular diagnosis is not possible in most patients. Having excluded common sporadic, inherited and metabolic causes, we used an unbiased whole exome...
Whole exome sequencing and the clinician
Daniyal Daud, Helen Griffin, Konstantinos Douroudis, Stephanie Kleinle, Gail Eglon, Angela Pyle, Patrick F Chinnery, Rita Horvath
Mar 07, 2019
Whole exome sequencing (WES) is a recently developed technique in genetics research that attempts to identify causative mutations in complex, undiagnosed genetic conditions. Causative mutations are usually identified after...
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