Bioinformatics Of Genome Evolution From Ancestral To Modern Metabolism Phylogenomics And Comparative Genomics To Understand Microbial Evolution
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Bioinformatics of Genome Evolution: from Ancestral to Modern Metabolism Phylogenomics and Comparative Genomics to Understand Microbial Evolution
Bioinformatics, that is the interdisciplinary field that blends computer science and biostatistics with biological and biomedical sciences, is expected to gain a central role in next feature. Indeed, it has now affected several fields of biology, providing crucial hints for the understanding of biological systems and also allowing a more accurate design of wet lab experiments. In this work, the analysis of sequence data has be used in different fields, such as evolution (e.g. the assembly and evolution of metabolism), infections control (e.g. the horizontal flow of antibiotic resistance), ecology (bacterial bioremediation).
Tectono-metamorphic evolution of the continental units along the edge between Alpine and Hercynian Corsica
In this work the central area of Corsica island was studied in order to reconstruct the tectono-metamorphic history of the continental and oceanic high pressure units that occupy the structurally deeper levels of the tectonic stacking of Alpine Corsica and their stratigraphic and structural relationship with the European margin (Hercynian Corsica). The study includes the geological mapping, the mesoscale and microscale structural analysis, the acquisition of chemical analyzes and micromaps with the microprobe, thermobarometric estimation through specific methodologies for metapelites, U-Th-Pb dating of zircons and allanites. The results obtained allows to reconstruct the geodynamic model of this sector of the Alpine belt from the Permian to the Burdigalian.
Functional validation of genetic variants identified by next generation sequencing in malformations of cortical development
Malformations of cortical development (MCDs) result from a disruption in the process of the human brain cortex formation: currently, there are no pharmacological treatments for diffuse MCDs. Next-generation sequencing has accelerated the identification of MCDs causing genes: in some cases, functional studies are needed to clarify the role of genetic variants. The aim of this PhD project has been to apply a multidisciplinary approach to identify causative mutations in patients with MCDs, validate the pathogenic role of the identified mutations, and assess the effectiveness of novel in vitro treatment for mTOR pathway related MCDs.