A5101772101- Genetic Associations and Epidemiology
- Tryptophan and brain disorders
- Bioinformatics and Genomic Networks
- Advanced Proteomics Techniques and Applications
- Biomedical Text Mining and Ontologies
- Metabolomics and Mass Spectrometry Studies
- Diet and metabolism studies
- Gene expression and cancer classification
- Race, Genetics, and Society
- Epigenetics and DNA Methylation
- Diabetes and associated disorders
- Neuroscience and Neuropharmacology Research
- Molecular Biology Techniques and Applications
- Stress Responses and Cortisol
- Gut microbiota and health
- Alzheimer's disease research and treatments
- Amino Acid Enzymes and Metabolism
- Colorectal Cancer Screening and Detection
- Research Data Management Practices
- Mass Spectrometry Techniques and Applications
- Genomics and Rare Diseases
- Neuroinflammation and Neurodegeneration Mechanisms
- Cellular transport and secretion
- Reproductive Biology and Fertility
- Genetic and phenotypic traits in livestock
European Bioinformatics Institute
2017-2025
Macquarie University
2024
University of Cambridge
2007-2020
Bridge University
2012
Czech Academy of Sciences, Institute of Biotechnology
2010
Asklepios
2009
Wellcome Sanger Institute
2005
Warneford Hospital
2003
United States Department of the Army
1984
Defence Science and Technology Laboratory
1977
The GWAS Catalog delivers a high-quality curated collection of all published genome-wide association studies enabling investigations to identify causal variants, understand disease mechanisms, and establish targets for novel therapies. scope the has also expanded targeted exome arrays with 1000 new associations added these technologies. As September 2018, contains 5687 comprising 71673 variant-trait from 3567 publications. New content includes 284 full P-value summary statistics datasets...
Abstract The NHGRI-EBI GWAS Catalog (www.ebi.ac.uk/gwas) is a FAIR knowledgebase providing detailed, structured, standardised and interoperable genome-wide association study (GWAS) data to >200 000 users per year from academic research, healthcare industry. contains variant-trait associations supporting metadata for >45 published across >5000 human traits, >40 full P-value summary statistics datasets. Content curated publications or acquired via author submission...
Abstract Polygenic scores (PGS) can be used for risk stratification by quantifying individuals’ genetic predisposition to disease, and many potentially clinically useful applications have been proposed. Here, we review the latest potential benefits of PGS in clinic challenges implementation. could augment through combined use with traditional factors (demographics, disease-specific factors, family history, etc.), support diagnostic pathways, predict groups therapeutic benefits, increase...
Abstract Polygenic scores (PGS) have transformed human genetic research and multiple potential clinical applications, including risk stratification for disease prevention prediction of treatment response. Here, we present a series recent enhancements to the PGS Catalog ( www.PGSCatalog.org ), largest findable, accessible, interoperable, reusable (FAIR) repository PGS. These include expansions in data content ancestral diversity as well addition new features. We further Calculator pgsc_calc ,...
Major depressive disorder (MDD) is a leading cause of disability worldwide and results tragically in the loss almost one million lives Western societies every year. This due to poor understanding disease pathophysiology lack empirical medical tests for accurate diagnosis or guiding antidepressant treatment strategies. Here, we have used shotgun proteomics analysis post-mortem dorsolateral prefrontal cortex brain tissue from 24 MDD patients 12 matched controls. Brain proteomes were...
The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to most comprehensive database of human results. Currently, it contains close 7 000 publications >15 traits, from which more than 625 lead associations have been curated. Additionally, 85 full genome-wide summary statistics datasets-containing association data all variants in analysis-are available downstream analyses such meta-analysis, fine-mapping, Mendelian randomisation or...
Abstract Brief N‐methyl‐ d ‐aspartate (NMDA) receptor blockade in neonatal rats has been reported to increase neuronal apoptosis. We replicated this finding using MK‐801 (0.5 mg/kg) administered twice on postnatal day 7, and then studied the long‐term consequences. In adulthood, treated showed reduced volume number within hippocampus, altered hippocampal NMDA (NR1 subunit) expression. Synaptophysin mRNA was decreased thalamus (laterodorsal nucleus). Adult MK‐801‐treated females had prepulse...
Abstract Background Despite decades of research, the molecular changes responsible for evolution human cognitive abilities remain unknown. Comparative evolutionary studies provide detailed information about DNA sequence and mRNA expression differences between humans other primates but, in absence information, it has proved very difficult to identify pathways relevant cognition. Results Here, we compare gene metabolite concentrations brain them seen a disorder known affect abilities,...
Many critical maturational processes take place in the human brain during postnatal development. In particular, prefrontal cortex does not reach maturation until late adolescence and this stage is associated with substantial white matter volume increases. Patients schizophrenia other major psychiatric disorders tend to first present overt symptoms adolescence/early adulthood it has been proposed that developmental represents a "window of vulnerability".In study we used whole genome...
Background Previous studies of brain and peripheral tissues in schizophrenia patients have indicated impaired energy supply to the brain. A number also demonstrated dysfunction microvasculature patients. Together these findings are consistent with a hypothesis blood-brain barrier schizophrenia. In this study, we investigated cerebral vascular endothelium at level transcriptomics. Methodology/Principal Findings We used laser capture microdissection isolate both microvascular endothelial cells...
We have recently shown that a molecular biomarker signature comprised of inflammatory, hormonal and growth factors occurs in the blood serum from first onset schizophrenia patients. Here, we use same platform to investigate post mortem brain tissue (Brodmann area 10) patients who were mainly chronically ill drug treated. Twenty-one analytes are differentially expressed post-mortem tissue. Comparison with our previous mRNA profiling studies patient samples another frontal cortical showed 9...
Abstract Existing phenotype ontologies were originally developed to represent phenotypes that manifest as a character state in relation wild-type or other reference. However, these do not include the phenotypic trait attribute categories required for annotation of genome-wide association studies (GWAS), Quantitative Trait Loci (QTL) mappings any population-focussed measurable data. The integration and biological information with an ever increasing body chemical, environmental data greatly...
Polygenic scores (PGS) can be used to predict an individual's genetic predisposition a heritable trait or disease. In this tutorial you will learn about PGS and the Catalog, open database of existing that reused applied in research clinical settings.
Many previous studies have attempted to gain insight into the underlying pathophysiology of schizophrenia by studying postmortem brain tissues patients. However, such analyses can be confounded artifactual features this approach as lengthy agonal state and interval times. As several aspects are also manifested at peripheral level in proliferating cell types, we studied disorder through systematic transcriptomic proteomic skin fibroblasts biopsied from living We performed comparative...