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Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common(More)
Multiple sclerosis is a common disease of the central nervous system in which the interplay between inflammatory and neurodegenerative processes typically results in intermittent neurological disturbance followed by progressive accumulation of disability. Epidemiological studies have shown that genetic factors are primarily responsible for the substantially(More)
Trans-acting genetic variants have a substantial, albeit poorly characterized, role in the heritable determination of gene expression. Using paired purified primary monocytes and B cells, we identify new predominantly cell type-specific cis and trans expression quantitative trait loci (eQTLs), including multi-locus trans associations to LYZ and KLF4 in(More)
MOTIVATION Genetic variation at classical HLA alleles influences many phenotypes, including susceptibility to autoimmune disease, resistance to pathogens and the risk of adverse drug reactions. However, classical HLA typing methods are often prohibitively expensive for large-scale studies. We previously described a method for imputing classical alleles from(More)
— This paper presents an ontology driven framework for the development of a clinical expert system targeted for chest pain risk assessment. The proposed ontology driven framework will deploy key components (adaptive questionnaire, patient medical history, risk assessment and decision support capabilities) which can be reused for other areas thus(More)
Statistical imputation of classical HLA alleles in case-control studies has become established as a valuable tool for identifying and fine-mapping signals of disease association in the MHC. Imputation into diverse populations has, however, remained challenging, mainly because of the additional haplotypic heterogeneity introduced by combining reference(More)
There is a great deal of interest in a fine-scale population structure in the UK, both as a signature of historical immigration events and because of the effect population structure may have on disease association studies. Although population structure appears to have a minor impact on the current generation of genome-wide association studies, it is likely(More)
The coalescent revolutionised theoretical population genetics, simplifying , or making possible for the first time, many analyses, proofs, and derivations, and offering crucial insights about the way in which the structure of data in samples from populations depends on the demographic history of the population. However statistical inference under the(More)
The adoption of Electronic Healthcare Records (EHRs) holds the key for the success of next generation intelligent healthcare systems to improve the quality of healthcare and patient safety by facilitating the exchange of critical patient's episodic information among different stakeholders. The primary and secondary care healthcare systems store the episodic(More)