A5087550557- Biomedical Text Mining and Ontologies
- Gut microbiota and health
- Genomics and Phylogenetic Studies
- Machine Learning in Bioinformatics
- COVID-19 Clinical Research Studies
- Genetic Associations and Epidemiology
- Ethics in Clinical Research
- Long-Term Effects of COVID-19
- RNA modifications and cancer
- Forensic and Genetic Research
- Emergency and Acute Care Studies
- SARS-CoV-2 and COVID-19 Research
- Genetics, Bioinformatics, and Biomedical Research
- Gene expression and cancer classification
- Machine Learning in Healthcare
- Chronic Disease Management Strategies
- Salivary Gland Disorders and Functions
- Respiratory Support and Mechanisms
- Fermentation and Sensory Analysis
- Genetic and phenotypic traits in livestock
- Virology and Viral Diseases
- Scientific Computing and Data Management
- Race, Genetics, and Society
- Research Data Management Practices
- Cancer Genomics and Diagnostics
European Bioinformatics Institute
2023-2025
University of Ulster
2018-2023
Translational Research Institute
2021
Intel (United States)
2021
Altnagelvin Area Hospital
2021
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 ,...
A growing body of evidence supports an important role for alterations in the brain-gut-microbiome axis aetiology depression and other psychiatric disorders. The potential oral microbiome mental health has received little attention, even though it is one most diverse microbiomes dysbiosis been linked to systemic diseases with underlying inflammatory aetiology. This study examines structure composition salivary first time young adults who met DSM-IV criteria (n = 40) matched controls 43) using...
Autism spectrum disorder is an umbrella term for a group of neurodevelopmental disorders that associated with impairments to social interaction, communication, and behaviour. Typically, autism first detected screening tool (e.g. modified checklist in toddlers). However, the interpretation behavioural symptoms varies across cultures: sensitivity toddlers as low 25 per cent Sri Lanka. A culturally sensitive called pictorial assessment schedule has overcome this problem. Low- middle-income...
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.
Inflammatory Bowel Disease (IBD) is an umbrella term for a group of inflammatory diseases the gastrointestinal tract, including Crohn's and ulcerative colitis. Changes to intestinal microbiome, community micro-organisms that resides in human gut, have been shown contribute pathogenesis IBD. IBD diagnosis often delayed due its non-specific symptoms because invasive colonoscopy required confirmation, which leads poor growth children worse treatment outcomes. Feature selection algorithms are...
Inflammatory bowel disease (IBD) is a group of inflammatory diseases the human colon and small intestine. IBD symptoms are non-specific; diagnosis can be delayed because an invasive colonoscopy required for confirmation. Delayed linked to poor growth in children. Imbalances intestinal microbiome - community microorganisms that reside gut thought contribute development IBD. Work done date classifying host health statuses from patterns microbiomes with supervised learning algorithms has...
Health organizations and countries around the world have found it difficult to control spread of COVID-19. To minimize future impact on UK National Service improve patient care, there is a pressing need identify individuals who are at higher risk being hospitalized because severe Early targeted work was successful in identifying angiotensin-converting enzyme-2 receptors type II transmembrane serine protease dependency as drivers infection. Although approach highlights key pathways,...
Abstract Methods to estimate polygenic scores (PGS) from genome-wide association studies are increasingly utilized. However, independent method evaluation is lacking, and comparisons often limited. Here, we evaluate derived using seven methods in five biobank (totaling about 1.2 million participants) across 16 diseases quantitative traits, building on a reference-standardized framework. We conducted meta-analyses quantify the effects of choice, hyperparameter tuning, ensembling target PGS...
The European Molecular Biology Laboratory's Bioinformatics Institute (EMBL-EBI) is one of the world's leading sources public biomolecular data. Based at Wellcome Genome Campus in Hinxton, UK, EMBL-EBI six sites Laboratory, Europe's only intergovernmental life sciences organization. This overview summarizes latest developments services that data resources provide to scientific communities globally (https://www.ebi.ac.uk/services).
Polygenic scores (PGS) are a measurement which represents genetic predisposition for heritable trait or phenotype by aggregating the effects of hundreds-to-millions variants into single number. The PGS Catalog is world’s largest FAIR (finable, accessible, interoperable, and reusable) repository along with relevant metadata required to evaluate reuse them. have emerged as commonly used genomic tool that multiple research applications potential clinical applications. This webinar will...
<ns3:p>Quality control of genomic data is an essential but complicated multi-step procedure, often requiring separate installation and expert familiarity with a combination different bioinformatics tools. Dependency hell reproducibility are recurrent challenges. Existing semi-automated or automated solutions lack comprehensive quality checks, flexible workflow architecture, user control. To address these challenges, we have developed snpQT: scalable, stand-alone software pipeline using...
<ns3:p>Quality control of genomic data is an essential but complicated multi-step procedure, often requiring separate installation and expert familiarity with a combination different bioinformatics tools. Software incompatibilities, inconsistencies across computing environments, are recurrent challenges, leading to poor reproducibility. Existing semi-automated or automated solutions lack comprehensive quality checks, flexible workflow architecture, user control. To address these we have...
People with diabetes frequently contact the ambulance service about acute problems. Overall, treating and its associated complications costs NHS 10% of annual budget. Reducing unnecessary hospital admissions attendances is a high priority policy for across UK. This study aimed to determine characteristics emergency calls people who are subsequently conveyed by Northern Ireland Ambulance Service (NIAS).A retrospective dataset from NIAS was obtained Trust's Command Control system relating...
Abstract Objective The Covid Response Study (COVRES, NCT05548829) aims to carry out an integrated multi-omic analysis of factors contributing host susceptibility SARS-CoV-2 among a patient cohort 1000 people from the geographically isolated island Ireland. Background Health organisations and countries around world have found it difficult control spread coronavirus disease 2019. To minimise impact on NHS improve care, there is drive for rapid tests capable detecting individuals who are at...
<sec> <title>BACKGROUND</title> Health organizations and countries around the world have found it difficult to control spread of COVID-19. To minimize future impact on UK National Service improve patient care, there is a pressing need identify individuals who are at higher risk being hospitalized because severe Early targeted work was successful in identifying angiotensin-converting enzyme-2 receptors type II transmembrane serine protease dependency as drivers infection. Although approach...
Microbiota profiles measure the structure of microbial communities in a defined environment (known as microbiomes). In past decade, microbiome research has focused on health applications result which gut been implicated development broad range diseases such obesity, inflammatory bowel disease, and major depressive disorder. A key goal many experiments is to characterise or describe community. High-throughput sequencing used generate microbiota profiles, but data gathered via this method are...
Motivation: Quality control of genomic data is an essential but complicated multi-step procedure, often requiring separate installation and expert familiarity with a combination disparate bioinformatics tools. Results: To provide automated solution that retains comprehensive quality checks flexible workflow architecture, we have developed snpQT, scalable, stand-alone software pipeline, offering some 36 discrete filters or correction steps, plots before-and-after user-modifiable thresholding....