2 resultados para Genomic data integration

em CORA - Cork Open Research Archive - University College Cork - Ireland


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Expression Quantitative Trait Loci (eQTL) analysis allows for the identification of genetic variation associated with variation in gene expression. It is often unclear however, which of the associated variants are causal, and by what mechanism. Integrating functional genomic data with eQTL data can provide insight into the impact of natural variation in the population, and the nature of the transcriptional machinery itself. In this thesis, I integrate functional genomic data with eQTL data derived from both 5’ CAGE and 3’ TagXseq expression assays, in developing embryos. I first use both datasets to analyse the transcription landscape in embryonic D., melanogaster, and then carry out an analysis of sequence motifs associated with transcription factor binding sites, promoters, and 3’ polyadenylation sites. Finally, I integrate functional genomic data, including these novel sequence motifs, to shed light on the mechanisms of gene expression variation in D.,melanogaster. I am able to demonstrate that some variants effecting gene regulation in Drosophila are found within haplotypes which buffer their effects.

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The European Union has expanded significantly in recent years. Sustainable trade within the Union, leading to economic growth to the benefit of the ‘old’ and ‘new’ member states is thus extremely important. The road infrastructure is strategic and vital to such development since an uneven transport infrastructure, in terms of capacity and condition, has the potential to reinforce uneven development trends and hinder economic convergence of old and new member states. In the decades since their design and construction, loading conditions have significantly changed for many major highway infrastructure elements/networks owing primarily to increased freight volumes and vehicle sizes. This, coupled with the gradual deterioration of a significant number of highway structures due to their age, and the absence of a pan-European assessment framework, can be expected to affect the smooth functioning of the infrastructure in its as-built condition. Increased periods of reduced flow can be expected owing to planned and unplanned interventions for repair/rehabilitation. This paper reports the findings of a survey regarding the current status of the highway infrastructure elements in six countries within the European Union as reported by the owners/operators. The countries surveyed include a cross-section of ‘existing’ older countries and ‘new’ member states. The current situations for bridges, culverts, tunnels and retaining walls are reported, along with their potential replacement costs. The findings act as a departure point for further studies in support of a centralised and/or synchronised EU approach to infrastructure maintenance management. Information in the form presented in this paper is central to any future decision-making frameworks in terms of trade route choice and operations, monetary investment, optimised maintenance, management and rehabilitation of the built infrastructure and the economic integration of the newly joined member states.