Apesar de altamente estável, o DNA sofre milhares de alterações em sua estrutura diariamente, sejam essas espontâneas ou pela exposição a agentes mutagênicos. A maior parte dessas alterações é prontamente removida por um conjunto de eventos de reparo de DNA. A via de reparo por excisão de nucleotídeos (NER) é a mais versátil e flexível lidando com uma variedade de lesões que podem gerar distorções das hélices do DNA. Esses danos resultam em alterações características que, caso não reparadas, podem gerar mutações ou morte celular e, consequentemente, câncer e envelhecimento. Algumas síndromes, nas quais os pacientes são sensíveis à luz solar, estão relacionadas à deficiência no processo de NER, como a Xeroderma Pigmentosum (XP), síndrome de Cockayne (CS) e Tricotiodistrofia (TTD). Indivíduos brasileiros, incluindo pacientes com diagnóstico clínico de XP e membros das famílias, passaram por um processo in silico para a identificação variantes em genes relacionados aos processos de reparo do DNA após o sequenciamento do DNA por plataformas de nova geração (NGS: plataforma ABI 5500XL SOLiD e MiSeq Illumina) e análises de Bioinformática. Para cada paciente, foram selecionados os melhores valores de parâmetros para se realizar a busca por variantes considerando a qualidade de alinhamento e a taxa de cobertura das bases alvo. SNPs já depositados no banco de dados do projeto 1000genomes foram removidos de nossos dados. O restante das variantes foi analisado para encontrar potenciais candidatos que poderiam explicar o diagnóstico clínico do paciente. Em muitas amostras foi possível determinar pelo menos uma variante (mutação) com uma elevada possibilidade de ser responsável pelos sintomas XP. Para alguns pacientes, a má qualidade do sequenciamento ou eventos não esclarecidos durante este, dificultou a identificação de candidatos à mutação patogênica. Potenciais mutações não sinônimas foram analisadas com os programas SIFT e PROVEAN, que identificaram a potencial capacidade deletéria da alteração de aminoácido na proteína. Finalmente, foi desenvolvida uma interface de domínio público amigável, a Human Variantes do Finder Interface (http://www.varfinderhg.com.br), que visa facilitar a identificação de variantes em dados gerados por NGS. / Although highly stable, DNA molecule undergoes thousands of damage in its structure every day, due to spontaneous lesions or exposure to various mutagens. Most of these lesions are readily removed by a number of cellular DNA repair processes. The process of nucleotide excision repair (NER) is the most versatile and flexible dealing with a variety of lesions that can lead to distortions of the DNA strands. Ultraviolet irradiation induced DNA damage are the main substrates for NER. These DNA damage, if not repaired, can generate mutations or cell death causing several diseases, including cancer and aging. Some syndromes, sensitive to sunlight, are related to deficiencies in the NER process, such as Xeroderma Pigmentosum (XP), Cockayne syndrome (CS) and Trichothiodystrophy (TTD). Brazilian individuals, including patients with clinical diagnosis of XP and family members, went through in silico process for the identification of variants in genes related to DNA repair processes after DNA sequencing by next generation sequencing (NGS in the platforms ABI 5500XL SOLiD and MiSeq Illumina) and dedicated Bioinformatics pipelines. For each patient the best search pattern of variant calling was used considering the alignment quality and coverage rate of bases in target. SNPs already deposited at the 1000genomes project database were removed from the data. The remaining variants were analyzed to find potential candidates that could explain the clinical diagnosis. In many samples, it was possible to determine at least one variant (mutation) with a high possibility of being responsible for the clinical XP. For some patients, the poor quality of the sequencing or unclear events during sequencing hampered the identification of clear mutation candidates. Potential nonsynonymous mutations were analyzed with SIFT and PROVEAN softwares, which identified the potential deleterious capacity of the amino acid change in the protein. Finally, we developed a user-friendly public domain interface, the Human Variants Finder Interface (http://www.varfinderhg.com.br), which, we expect, will facilitate the identification of variants in data generated by NGS.

Apesar de altamente estável, o DNA sofre milhares de alterações em sua estrutura diariamente, sejam essas espontâneas ou pela exposição a agentes mutagênicos. A maior parte dessas alterações é prontamente removida por um conjunto de eventos de reparo de DNA. A via de reparo por excisão de nucleotídeos (NER) é a mais versátil e flexível lidando com uma variedade de lesões que podem gerar distorções das hélices do DNA. Esses danos resultam em alterações características que, caso não reparadas, podem gerar mutações ou morte celular e, consequentemente, câncer e envelhecimento. Algumas síndromes, nas quais os pacientes são sensíveis à luz solar, estão relacionadas à deficiência no processo de NER, como a Xeroderma Pigmentosum (XP), síndrome de Cockayne (CS) e Tricotiodistrofia (TTD). Indivíduos brasileiros, incluindo pacientes com diagnóstico clínico de XP e membros das famílias, passaram por um processo in silico para a identificação variantes em genes relacionados aos processos de reparo do DNA após o sequenciamento do DNA por plataformas de nova geração (NGS: plataforma ABI 5500XL SOLiD e MiSeq Illumina) e análises de Bioinformática. Para cada paciente, foram selecionados os melhores valores de parâmetros para se realizar a busca por variantes considerando a qualidade de alinhamento e a taxa de cobertura das bases alvo. SNPs já depositados no banco de dados do projeto 1000genomes foram removidos de nossos dados. O restante das variantes foi analisado para encontrar potenciais candidatos que poderiam explicar o diagnóstico clínico do paciente. Em muitas amostras foi possível determinar pelo menos uma variante (mutação) com uma elevada possibilidade de ser responsável pelos sintomas XP. Para alguns pacientes, a má qualidade do sequenciamento ou eventos não esclarecidos durante este, dificultou a identificação de candidatos à mutação patogênica. Potenciais mutações não sinônimas foram analisadas com os programas SIFT e PROVEAN, que identificaram a potencial capacidade deletéria da alteração de aminoácido na proteína. Finalmente, foi desenvolvida uma interface de domínio público amigável, a Human Variantes do Finder Interface (http://www.varfinderhg.com.br), que visa facilitar a identificação de variantes em dados gerados por NGS. / Although highly stable, DNA molecule undergoes thousands of damage in its structure every day, due to spontaneous lesions or exposure to various mutagens. Most of these lesions are readily removed by a number of cellular DNA repair processes. The process of nucleotide excision repair (NER) is the most versatile and flexible dealing with a variety of lesions that can lead to distortions of the DNA strands. Ultraviolet irradiation induced DNA damage are the main substrates for NER. These DNA damage, if not repaired, can generate mutations or cell death causing several diseases, including cancer and aging. Some syndromes, sensitive to sunlight, are related to deficiencies in the NER process, such as Xeroderma Pigmentosum (XP), Cockayne syndrome (CS) and Trichothiodystrophy (TTD). Brazilian individuals, including patients with clinical diagnosis of XP and family members, went through in silico process for the identification of variants in genes related to DNA repair processes after DNA sequencing by next generation sequencing (NGS in the platforms ABI 5500XL SOLiD and MiSeq Illumina) and dedicated Bioinformatics pipelines. For each patient the best search pattern of variant calling was used considering the alignment quality and coverage rate of bases in target. SNPs already deposited at the 1000genomes project database were removed from the data. The remaining variants were analyzed to find potential candidates that could explain the clinical diagnosis. In many samples, it was possible to determine at least one variant (mutation) with a high possibility of being responsible for the clinical XP. For some patients, the poor quality of the sequencing or unclear events during sequencing hampered the identification of clear mutation candidates. Potential nonsynonymous mutations were analyzed with SIFT and PROVEAN softwares, which identified the potential deleterious capacity of the amino acid change in the protein. Finally, we developed a user-friendly public domain interface, the Human Variants Finder Interface (http://www.varfinderhg.com.br), which, we expect, will facilitate the identification of variants in data generated by NGS.

Efficiency as a   part of usability is a much researched topic. How we design user interfaces   though, is often a matter of convention rather than scientifically validated   patterns. There is however a reason for this; research has shown that users   form clear mental models, or expectations of how an interface should look and   work. Designing with these models in mind should therefore yield efficient   results according to some researchers. This study aimed to test the extent to   which these models affect efficiency through a quantitative quasi-experiment. The experiment   was designed to measure click cost while designing for, or contrary to, the   mental models. This was achieved by adding or subtracting the variables:   placement conventions, saliency, clutter, appearance conventions and help   text to an experimental group and a control group respectively. To ascertain   the impact of these independent variables the click cost in milliseconds has   been recorded in a web questionnaire environment, aggregated and   comparatively analyzed between the groups. The result is a clearer picture of   each variables independent effect on click costs and efficiency. The main   result show a tendency towards higher click costs for badly handled placement   conventions, saliency and appearance conventions, however the differences are   small. In the case of clutter no increase in click cost could be recoded. The   single largest increase in click cost is incurred when help texts are   omitted. / Effektivitet,som en del av användbarhet, är ett väl undersökt område. Hur gränssnittutformas grundar sig oftast i allmänt accepterade normer snarare än påvetenskapliga validerade mönster. Det finns dock en anledning till detta:forskningEffektivitet,som en del av användbarhet, är ett väl undersökt område. Hur gränssnittutformas grundar sig oftast i allmänt accepterade normer snarare än påvetenskapliga validerade mönster. Det finns dock en anledning till detta:forskning visar att användare skapar mentala modeller eller förväntningar på hur ett gränssnitt bör se ut och fungera vid interaktion. Att utforma gränssnitt med dessa modeller i åtanke bör därför, enligt vissa forskare, ge effektiva resultat. Syftet med denna studie var att testa i vilken utsträckning dessa mentala modeller har en inverkan på effektiviteten i gränssnitt genom ett kvantitativt kvasiexperiment. Experimentet utformades för att mäta klickkostnaden i gränssnitt som överensstämmer med, eller strider mot, de mentala modellerna. Detta uppnåddes genom att tillföra eller ta bort variablerna: placeringspraxis, visuellt framträdande, brus, utseendepraxis och hjälptext till en testgrupp och en kontrollgrupp. För att fastställa till vilken grad dessa oberoende variabler påverkar har klickkostnaden i millisekunder uppmätts i ett webenkätsgränssnitt, aggregerats och jämförts mellan grupperna. Resultatet är en tydligare bild av varje variabels grad av påverkan på klickkostnad och effektivitet. Det huvudsakliga resultatet visar på en tendens till högre klickkostnad när placeringspraxis, visuellt framträdande och utseendepraxis frångår normerna. Differenserna är dock små. Vad gäller brus har ingen ökning i klickkostnad kunnat uppmätas. Den enskilt största ökningen i klickkostand sker när hjälptext utelämnas.

This thesis examines the applicability of cloud computing systems in project management. The main objective is the definition of the requirements on a project management software tool and their subsequent application in the specific area of cloud software providers. The theoretical part of the thesis studies the essential aspects of the principle of software provision services. The first part is dedicated to the history and general definition of the concept of cloud computing. The second theoretical part describes the basic principles of project management. Project management is not examined as a whole but instead, the emphasis is put on a specific area of human resources management. The theoretical part also contains the definition of the requirements, which are used as assessment standards for the practical part of the thesis. The practical part introduces an overview of 10 selected providers of cloud-based applications. The previously defined assessment standards are applied subsequently on each subject. The generated evaluation data are used to verify the defined hypotheses supporting the concept of cloud computing applications in project management.

This diploma thesis describes the work performed in the optimization of the corporate network in the company Alps Electric Czech to expand the amount of information obtained about the state of the network and thus improve the response of the IT department to potencial errors. During the optimization, a monitoring system was also deployed and its connection to the helpdesk and a tailor-made website running on the Flask microframework. With the gradual deployment, adjustments were made based on feedback from the IT department staff. Overall, the network has become more clarified, increasing the efficiency of maintenance and service.

The web application Testpersonbokaren is used by Nordic Medtest to book fake test persons for various actors in healthcare so that they can test and validate their environments without being dependent on real personal data. The purpose of this project is to develop a new version of Testpersonbokaren with new technologies and frameworks as the existing version has several problems and limitations. This was achieved by creating a Node.js server and developing two new web interfaces for Testpersonbokaren, where one is only used by Nordic Medtest and the other is used by Sweden's regions, municipalities and private actors. Both web interfaces are developed with the React framework. The new Testpersonbokaren has a more modern look and more functionality than the old one. Unlike the old version, the new one has good documentation, which makes the further development of the web application easier. The new Testpersonbokaren is ready to be put into operation at Nordic Medtest. / Webbapplikationen Testpersonbokaren används av Nordic Medtest för att boka påhittade testpersoner åt olika aktörer inom hälso- och sjukvården så att de kan testa och validera sina miljöer utan att vara beroende av riktiga personuppgifter. Syftet med detta projekt är att utveckla en ny version av Testpersonbokaren med nya tekniker och ramverk då den befintliga versionen har flera problem och begränsningar. Detta uppnåddes genom att skapa en Node.js-server och utveckla två nya webbgränssnitt för Testpersonbokaren, där det ena endast används av Nordic Medtest och det andra används av Sveriges regioner, kommuner och privata aktörer. Båda webbgränssnitten är framtagna med React-ramverket. Den nya Testpersonbokaren har ett modernare utseende och mer funktionalitet än den gamla. Till skillnad från den gamla versionen har den nya bra dokumentation vilket underlättar vidareutvecklingen av webbapplikationen. Den nya Testpersonbokaren är redo att sättas i drift hos Nordic Medtest.

Currently, the SEP laboratory has developed a system to automatically generate PDF reports summarizing the results of evaluation tests. This system works well in production but has several limitations. In fact, the use of OriginPro software is an obstacle because of the need for a paid license and hence its use is often limited to researchers and therefore not accessible by coaches and athletes. This means that coaches and athletes cannot access the results directly and must always go through the researchers to obtain the PDF report. Moreover, the PDF report is fixed and not dynamic, i.e. once it is generated, it is not possible to interact with it nor to obtain additional information than the ones presented in the report. Thus, this project aims at developing a web interface to visualize the results of the evaluation tests to improve the follow-up of the French elite athletes and coaches, in order to allow them to access in a simpler and faster way the test results but also to offer them new insights and information. Therefore, a prototype of a web interface integrating results dashboards for 22 out of the 28 different evaluation tests, was developed. This prototype was then evaluated on its usability and user experience in order to obtain subjective but also quantitative evaluations. Finally, it was shown that the use of such an interface is of great interest for athletes and coaches. Indeed, it would save them a lot of time compared to the current process of submitting test reports and there would be a real added value with the dynamic aspect of the interface, and this could be integrated into their daily practices in order to individualize the training, capitalize on the data collection, as well as to follow their athletes longitudinally. / För närvarande har SEP-laboratoriet utvecklat ett system för att automatiskt generera PDF-rapporter som sammanfattar resultaten av utvärderingstesterna. Detta system fungerar bra i produktionen men har flera begränsningar. Användningen av OriginPro-programvaran är i själva verket ett hinder eftersom det krävs en betald licens och därför är användningen ofta begränsad till forskare och därför inte tillgänglig för tränare och idrottare. Detta innebär att tränare och idrottare inte kan få tillgång till resultaten direkt utan alltid måste gå via forskarna för att få PDF-rapporten. PDF-rapporten är dessutom fast och inte dynamisk, dvs. när den väl är genererad är det inte möjligt att interagera med den eller att få ytterligare information än den som presenteras i rapporten. Detta projekt syftar därför till att utveckla ett webbgränssnitt för att visualisera resultaten av utvärderingstesterna för att förbättra uppföljningen av franska elitidrottare och tränare, för att ge dem tillgång till testresultaten på ett enklare och snabbare sätt, men också för att ge dem nya insikter och information. Därför utvecklades en prototyp av ett webbgränssnitt som integrerar resultatinstrumentpaneler för 22 av de 28 olika utvärderingstesterna. Prototypen utvärderades sedan med avseende på användbarhet och användarupplevelse för att få subjektiva men också kvantitativa utvärderingar. Slutligen visade det sig att användningen av ett sådant gränssnitt är av stort intresse för idrottare och tränare. Det skulle spara dem mycket tid jämfört med den nuvarande processen med att skicka in testrapporter och det skulle finnas ett verkligt mervärde med den dynamiska aspekten av gränssnittet, och detta skulle kunna integreras i deras dagliga praxis för att individualisera träningen, dra nytta av datainsamlingen och för att följa sina idrottsmän i ett längre perspektiv.

Submitted by SBI Biblioteca Digital (sbi.bibliotecadigital@puc-campinas.edu.br) on 2018-06-07T14:48:53Z No. of bitstreams: 1 Andre Luiz da Silva.pdf: 21913229 bytes, checksum: a21aa44045c7a96617c071e0837056d8 (MD5) / Made available in DSpace on 2018-06-07T14:48:53Z (GMT). No. of bitstreams: 1 Andre Luiz da Silva.pdf: 21913229 bytes, checksum: a21aa44045c7a96617c071e0837056d8 (MD5) Previous issue date: 2007-05-30 / This study describes a comparative analysys of accessibility for the blind used in SGEAD (Distant Learning Management Systems), TelEduc and WebCT according to criteria, recommendations and international norms such as heuristical evaluation techniques, automatic test of accessibility, inspection based on the points of verification of the W3C recommendations for the accessibility of the content of the Web 1.0 and from tasks reports and questionnaires conducted with the users. One of the goals of this researches is to demonstrate the importance of the use of standards and guides for Web accessibility as support for accessibility for the blind in the current scenario of digital inclusion. The quality of the interface is essencial for the success of distant learning interactive systems. It is expected that this study will contribute to the production of knowledge that will guide and support the professionals involved with e-Iearning. / Este estudo descreve a an?lise comparativa de acessibilidade para cegos aplicadas nos Sistemas de Gerenciamento para Educa??o a Dist?ncia (SGEAD) TelEduc e WebCT, segundo os crit?rios, recomenda??es e normas internacionais, tais como, t?cnicas de avalia??o heur?stica, teste autom?tico de acessibilidade, inspe??o baseada nos pontos de verifica??o das recomenda??es para a acessibilidade do conte?do da Web 1.0 do W3C e de tarefas e question?rios com os usu?rios. Um dos objetivos desta pesquisa ? demonstrar a import?ncia da utiliza??o de padr?es e guias para a Acessibilidade Web como fator de apoio a acessibilidade para cegos dentro do atual cen?rio de inclus?o digital. A qualidade da interface ? fundamental para que sistemas interativos de educa??o a dist?ncia possam ser utilizados com sucesso. Espera-se com este estudo, contribuir para a produ??o de conhecimentos que sirvam para orientar e apoiar os profissionais envolvidos com a educa??o computadorizada.

The aim of this master´s thesis was to create a web interface for working with bibliographic quotations. This whole project was created to easy writing bibliographic quotations in author´s piece. The system allows inserting, searching and managing bibliographic quotations. These quotations can also be exported into four types of files : RTF, XML, HTML, a database bib file. The czech norms CSN ISO 690-1 and also CSN ISO 690-2 are fully supported. Whole the system is based on language like PHP which is used for developing dynamic web pages. The system contains graphical user interface, which is simple to use. The web interface is fully functional and it is ready for using by autors of scientific publications or students in schools.

This diploma thesis deals with design, realization and analysis of security and surveillance systems for buildings and spaces containing advanced components. One of the main design's parts is dedicated to intruder alarm system, access system, attendance and CCTV systems with the possibility of automatic motion tracking. Controlling and monitoring of particular subsystems is possible both locally and remotely from a computer via a web interface or by means of a software. The access to camera system from a mobile phone is also possible. IAS/ACS systems also enable controlling and transferring information about their state via SMS. The designed system was realized completely and its operating was demonstrated. The realization is described in detail including illustration of configuration of particular components. A security analysis and a possible future development of the project is summarized in the conclusion.