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.

Currently, on the Internet we can see most of the time clasic website that offer multimedia content to users in the form of texts, pictures and videos or favorite e-shops to enable the purchase of various goods from the comfort of home. More and more we can see website sites, or applications that provide the user with a specific service. This thesis describes a new modern approaches for creating web sites and applications using the latest version of the markup language HTML, which is HTML5. The work is primarily intended for Web developers and encoders, which should provide an overview and basic information in the field of web applications. The acquired knowledge would be to simplify and streamline the work and especially to save time, which can undo web users in the form of new features. The result of their work can be faster, more comfortable user web application (website) that fully exploit potential of web browsers.

Internet and websites are today one of the most important communication channels of almost all companies. They offer a simple, fast and effective way of communication, which is also available worldwide in a few seconds. With the globalization of market, more and more companies try to expand their business beyond the territory of the home state. In the current time of start-ups is the Internet also often a medium that allows formation of new spheres of business for which the website is absolutely essential channel. This type of business is internet based and has very often international ambitions from the very beginning. Given that each country (or region) can be seen as distinctive culture, it is advisable to locate websites for the needs of the foreign country. This is exactly the theme of this thesis. The concrete objective of this thesis is to offer a methodology for website localization in terms of webdesign. The basic building block is the delimitation of a multidisciplinary theoretical framework that examines the concept of culture and extensive literature review allowing current insight into the linking of website and culture, i.e. cultural website localization. Suitable method for gripping such a complex concept as a culture emerge from a theoretical framework as well. As the most appropriate method were determined Hofstedes cultural dimensions, which are then used for the analysis of cultural determination of web elements. Data collection for the purpose of analysis of web elements cultural determination is performed using a content analysis of websites from nine different countries. The results of the analysis are compared and synthesized with the findings stemming from a literature review. The final artifact of this thesis, a methodology for website localization from the perspective of web design, is based on this ground. Validation of the proposed methodology is done on the basis of assessment of the methodology for a domain of web design. This assessment is based on interviews with experts from different countries as well as presentation of concrete example of methodology use within a midsize website.

The presented work deals with the development of a monitoring system for monitoring the operation of the laboratory. The theoretical part of the work includes information on the safety of operation and work in biological laboratories, measured physical quantities and the principle of their measurement. The monitoring system is built on a compact ESP32-CAM camera and a WeMos D1 development board. The practical part consists of the design and implementation of a given system and the creation of a full-stack application for displaying live input from the laboratory for monitoring measured quantities in real time.