A5042927346- Genetic Associations and Epidemiology
- Diabetes and associated disorders
- Bone fractures and treatments
- Hip and Femur Fractures
- Foot and Ankle Surgery
- Celiac Disease Research and Management
- Orthopedic Surgery and Rehabilitation
- Genetics, Bioinformatics, and Biomedical Research
- SARS-CoV-2 detection and testing
- Single-cell and spatial transcriptomics
- Glaucoma and retinal disorders
- Pelvic and Acetabular Injuries
- Gene expression and cancer classification
- Corneal surgery and disorders
- Corneal Surgery and Treatments
- Trauma and Emergency Care Studies
- SARS-CoV-2 and COVID-19 Research
- Immune Cell Function and Interaction
- Peripheral Artery Disease Management
- T-cell and B-cell Immunology
- Diabetes Management and Research
- IL-33, ST2, and ILC Pathways
- Health Promotion and Cardiovascular Prevention
- Global Health and Surgery
- COVID-19 diagnosis using AI
University of Cambridge
2014-2025
MRC Biostatistics Unit
2018-2022
Wellcome Sanger Institute
2019
Addenbrooke's Hospital
2015-2018
Juvenile Diabetes Research Foundation
2014-2016
Wellcome Trust
2014-2016
National Institute for Health Research
2015
Pyongyang University of Science and Technology
2015
Karolinska Institutet
2015
Kim Il-sung University
2015
The genes and cells that mediate genetic associations identified through genome-wide association studies (GWAS) are only partially understood. Several have investigated the regulation of gene expression shown disease-associated variants over-represented amongst quantitative trait loci (eQTL) variants. Evidence for colocalisation eQTL disease causal can suggest these associations. Here, we used analysis to investigate whether 595 ten immune-mediated diseases consistent with a variant...
Genome-wide association studies (GWAS) have transformed our understanding of the genetics complex traits such as autoimmune diseases, but how risk variants contribute to pathogenesis remains largely unknown. Identifying genetic that affect gene expression (expression quantitative trait loci, or eQTLs) is crucial addressing this. eQTLs vary between tissues and following in vitro cellular activation, not been examined context human inflammatory diseases. We performed eQTL mapping five primary...
Numerous callers contact hospital switchboards, many repeatedly. Recorded switchboard messages have broad reach. We sampled outgoing calls from our regional infectious diseases service to other switchboards over a 3-month period. Wait times varied substantially. Two were cut off unanswered. commonly covered infection control precautions for visitors, visiting rules, and guidance regarding calling medical advice. At least one message was out of date. Another advised unwell people not visit...
Abstract Motivation Methods for analysis of GWAS summary statistics have encouraged data sharing and democratized the different diseases. Ideal validation such methods is application to simulated data, where some ‘truth’ known. As increase in size, so does computational complexity evaluations; standard practice repeatedly simulates analyses genotype all individuals an example study. Results We developed a novel method based on alternative approach, directly simulating without individual as...
Abstract Thousands of genetic variants are associated with human disease risk, but linkage disequilibrium (LD) hinders fine-mapping the causal variants. Both lack power, and joint tagging two or more distinct by a single non-causal SNP, lead to inaccuracies in fine-mapping, stochastic search robust than stepwise. We develop computationally efficient multinomial (MFM) approach that borrows information between diseases Bayesian framework. show MFM has greater accuracy analysis when shared...
Identifying whether potential causal variants for related diseases are shared can increase understanding of the etiology between diseases. Colocalization methods designed to disentangle and distinct in regions where two show association, but existing limited by assuming independent datasets. We extended allow control design common GWAS applied them four autoimmune diseases: type 1 diabetes (T1D); rheumatoid arthritis; celiac disease (CEL) multiple sclerosis (MS). Ninety associated with at...
This study aimed to investigate potential factors, including delay surgical stabilisation, affecting mortality in older patients sustaining pelvic or acetabular (PA) fractures.A retrospective review of the Trauma Audit and Research Network (TARN) database was performed identify (aged 65 over) PA fractures treated surgically a UK Major Centre (MTC) between 2015 2019. Chi-squared Fisher tests were used compare 1-year rates following operative intervention within 72 h after h. Kaplan-Meier...
Abstract Motivation Methods for analysis of GWAS summary statistics have encouraged data sharing and democratised the different diseases. Ideal validation such methods is application to simulated data, where some “truth” known. As increase in size, so does computational complexity evaluations; standard practice repeatedly simulates analyses genotype all individuals an example study. Results We developed a novel method based on alternative approach, directly simulating without individual as...
Abstract Introduction This study aimed to investigate potential factors, including delay surgical stabilisation, affecting mortality in older patients sustaining pelvic or acetabular (PA) fractures. Method A retrospective review of the Trauma Audit and Research Network (TARN) database was performed identify (aged 65 over) PA fractures treated surgically a UK Major Centre (MTC) between 2015 2019. Chi-squared Fisher tests were used compare 1-year rates following operative intervention within...
Abstract Thousands of genetic variants have been associated with human disease risk, but linkage disequilibrium (LD) hinders fine-mapping the causal variants. We show that stepwise regression, and, to a lesser extent, stochastic search fine mapping can mis-identify as causal, SNPs which jointly tag distinct Frequent sharing between immune-mediated diseases (IMD) motivated us develop computationally efficient multinomial (MFM) approach borrows information in Bayesian framework. MFM has...