De nos jours, l'avènement de la dérégulation et l'ouverture à la concurrence stimulent les fournisseurs de services à être de plus en plus compétitifs et à attirer de plus en plus d'abonnés afin de faire face aux fortes pressions du marché. Pour ce faire, les fournisseurs d'aujourd'hui favorisent une approche user-centric qui consiste à fournir le plus rapidement possible des services orientés utilisateurs. Cette approche user-centric gagne de plus en plus d'ampleur suite à l'émergence du contexte de nouvelle génération de réseaux et de services (NGN/NGS). Dans ce contexte où les convergences de réseaux et de services sont omniprésentes, l'utilisateur devient de plus en plus nomade et il réclame l'accès à n'importe quel service, n'importe où, n'importe quand et par n'importe quel moyen. Son but est de composer dynamiquement une session personnalisée de services, dans laquelle converge un ensemble de services multi-domaines (Telco, Web et IT). Ensuite, il désire maintenir la continuité de cette session de services tout au long de sa mobilité spatiale et temporelle. Dans le cadre de cette thèse, nous proposons une nouvelle architecture de services, dénommée NGN/NGS Middleware qui suit une approche horizontale distribuée évènementielle et orientée service, et qui s'appuie sur un nouveau modèle de services. De plus, nous proposons deux solutions de gestion de la continuité de services, basées sur des communautés virtuelles et sur un handover sémantique. Ces solutions tiennent compte des préférences de l'utilisateur ainsi que de son contexte ambiant. Enfin, nous pensons apporter une réponse au monde du cloud en intégrant nos solutions pour gérer les utilisateurs du cloud. / Nowadays, with the advent of deregulation, service providers aim to be more competitive and to attract more subscribers in order to cope with the high market pressure. For this purpose, today's providers support a user-centric approach that consists on quickly providing user oriented services. This user-centric approach becomes more and more significant with the emergence of the next generation networks and services (NGN/NGS) context. Within this context, where network convergence and service convergence are omnipresent, the end-user becomes more nomadic and claims the access to any service, anywhere, anytime and by any means. His goal is to dynamically compose a personalized service session while converging a set of multi-domain services (Telco, Web and IT). Then, he wants to maintain the continuity of this service session throughout his spatial and temporal mobility. Within the scope of this thesis, we propose a novel service architecture, namely the NGN/NGS Middleware, that adopts an horizontal distributed event-driven and service oriented approachn and that is based on a novel service model. In addition, we propose two solutions for service continuity management, that are based on virtual communities and on a semantic handover. These solutions take into consideration the user's preferences and ambiant context. At the end, we think we could answer some cloud computing challenges by integrating our solutions to manage cloud users.

The North American genus Speyeria is an especially challenging radiation of butterflies due to ongoing hybridization, incomplete lineage sorting, and similar morphological characters among species. Adaptive radiations often require considerable evidence in order to resolve the evolutionary relationships of closely related individuals. Previous studies of this genus have found paraphyly among species and have been unable to disentangle these taxa due to a lack of data and/or incomplete sampling of the genus. As a result, the interspecific relationships among Speyeria remain unresolved. In an attempt to achieve phylogenetic resolution of the genus, we conducted population genomic and phylogenomic analyses of all North American Speyeria species, as well as several subspecies, based on genome wide markers using the SbfI restriction enzyme and restriction site associated DNA sequencing (RADseq). Together, our analyses recovered 16 species within Speyeria, validating previous taxonomic work. However, consistent with recent molecular analyses, internal relationships have poor support. This lack of resolution indicates Speyeria represent an ongoing adaptive radiation, with incomplete lineage sorting, hybridization, and lack of postzygotic reproductive barriers, supporting this hypothesis.

京都大学 / 0048 / 新制・課程博士 / 博士(理学) / 甲第18831号 / 理博第4089号 / 新制||理||1588(附属図書館) / 31782 / 京都大学大学院理学研究科生物科学専攻 / (主査)教授 阿形 清和, 教授 緒方 博之, 教授 高田 彰二 / 学位規則第4条第1項該当 / Doctor of Science / Kyoto University / DFAM

京都大学 / 0048 / 新制・課程博士 / 博士(理学) / 甲第19545号 / 理博第4205号 / 新制||理||1603(附属図書館) / 32581 / 京都大学大学院理学研究科生物科学専攻 / (主査)教授 村山 美穂, 教授 幸島 司郎, 教授 伊谷 原一 / 学位規則第4条第1項該当 / Doctor of Science / Kyoto University / DFAM

京都大学 / 0048 / 新制・課程博士 / 博士(医学) / 甲第20789号 / 医博第4289号 / 新制||医||1025(附属図書館) / 京都大学大学院医学研究科医学専攻 / (主査)教授 山田 亮, 教授 大森 孝一, 教授 高田 穣 / 学位規則第4条第1項該当 / Doctor of Medical Science / Kyoto University / DFAM

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Rare diseases represent a heterogeneous group of more than ~7000 different diseases, affecting 3,5-5,9% of the global population. Most rare diseases are genetic, but causal genes are known only in some of them. Many patients with rare diseases remain without a diagnosis, which is crucial for genetic counseling, prevention, and treatment. With the development of new methods of genome analysis, decreasing cost of sequencing, and increasing knowledge of the human genome, a new concept for identifying disease-causing genes was established. It is based on comparing the patient's genetic variability with the genetic variability of the general population. This dissertation describes next-generation sequencing technologies (NGS), bioinformatic analysis of acquired data and their applications in the elucidation of molecular underpinnings of rare genetic diseases. These procedures have led to the identification and characterization of causal genes and gene mutations in autosomal dominant tubulointerstitial kidney disease (SEC61A1, MUC1), autosomal dominant neuronal ceroid lipofuscinosis (CLN6, DNAJC5), neurodegenerative disease of unknown etiology (VPS15), Acadian variant of Fanconi syndrome (NDUFAF6) and spinal muscular atrophy (SMN1). The application of novel genome analysis techniques increased the...

Polycystic kidney disease is a severe genetic disease occurring in both adult and pediatric patients. The basic characteristic of this disease is the development and progressive enlargement of renal cysts gradually replacing functional kidney tissue. This leads to renal failure in many patients. However, renal cysts may also occur in a number of other diseases, including multisystem syndromes. This complicates differential diagnosis in some patients. In our study, we first focused on the diagnosis and characterization of genotypic-phenotypic relationships in patients with polycystic disease arising in childhood, later we extended our study to adult patients and patients with unclear clinical diagnosis. At the same time, we expanded the portfolio of analyzed disorders to a number of diseases in which the phenotype of polycystic kidneys may occur, and noncystic diseases as well. During our project, massive parallel sequencing was used to analyze 149 patients - 128 with cystic and 21 with noncystic clinically diagnosed nephropathies. At the same time, the findings were verified by Sanger sequencing in 176 relatives of our probands. Mutation detection reached 59% in cystic patients, and 43% in non-cystic patients, respectively. In many patients, molecular genetic analysis revealed a different etiology...