Rare diseases are estimated to affect 3.75% of the global population, which roughly translates to 300 million affected individuals. A large proportion of patients still do not have their diagnosis and current approaches such as chromosomal microarray (CMA), whole exome sequencing (WES), and whole genome sequencing (WGS) that targets DNA and the exome aims to resolve that very first step. RNA-seq serves as a powerful approach complementing the aforementioned methods that have reached a plateau in the diagnostic yield. RNA-seq can facilitate the finding of aberrant events that appear during transcription e.g., splicing, changes in gene expression and monoallelic expression. In this study, we aimed to establish RNA-seq analysis pipelines and evaluate whether RNA-seq could be utilized to enhance diagnostic yield. A total of 47 clinical samples were analysed along with the publicly controlled GEAUVADIS dataset to evaluate the potential of RNA-seq in a clinical setting. The pilot pipeline used, an RNA-seq analysis wrapper around Detection of RNA Outlier Pipeline (DROP), used detected a highly ranked splicing variant in a positive control control  sample that was hard to identify in a WGS analysis. The remaining two other positive control other two control samples with aberrant expression were also detected by the pipeline. Additionally, the pipeline gave a manageable list of candidate genes per affected sample in the population along with corroborating graphs that can support the decision-making for clinicians. The results of this pipeline proved successful for integrating RNA-seq and thustherefore, we expect anticipate an increase in diagnosis.

The aim of the diploma thesis is to describe and analyse information sources, which are useful for the molecules portfolio selection suitable for the future development of a generic drug. These information sources should be examined on the case study of the portfolio selection in a given therapeutic area. The topic of the diploma thesis is presented in the context of basic principles and functions of the generic farmaceutical industry and its information needs. The introductory chapter characterizes the farmaceutical industry in general and warn on a competitive environment, which the farmaceutical companies can succeed in thanks to the advanced methods of the business intelligence. The second chapter focuses on the differences betwen the generic and original pharmaceutical industry, a drug lifecycle is also introduced there. The next chapter specifies the methods of the business intelligence in the generic pharmaceutical industry on the ground of its information needs. The fourth chapter plays a key role. First of all, it introduces general characteristics of information sources used in the strategic portfolio management. Secondly, the detailed description and analysis of eight main information sources used by the generic companies within business intelligence follows. In the last chapter these...

Diploma thesis deals with problematics of offtake of flue gasses. In experimental part there was measured compound of flue gasses by analyzator of flue gates. Aplication is a project of heating of object of The Academy of Sciences of the Czech Republic in Brno. Project solves design of heating system, flue and of source of heat. Heating area is created by floor convectors,towel rails and radiators. Source of heat is designed in two variants : as a cascade of condensation boilers and as a cascade of low-temperature boilers.

Work deals with design and implementation a tutorial for demonstration deferred shading technique and its possibilities. It explains lighting and shading principles in intuitive and interactive way. Deferred shading is a technique which determines pixel color after the geometry rasterization of the entire scene. In other words the processing of geometry does not interfere with the shading process.

Diploma thesis deals with geothermal foundations. The aim of the thesis is to find optimal way of pipe winding for heat-carrying liquid in foundation piles. The problem is solved by CFD simulations in ANSYS Fluent. Determinative parameters like the pressure loss, heat fluxes and U-value in one pile circuit with two ways of pipe installations – Single coil, where reverse pipe is led in the middle of pile and Duplex Coil with reverse pipe in spiral shape are observed.

This diploma thesis deals with the design of sanitary and gas installations in a boarding house for seniors and their connection to existing utilities. For the whole object there will be designed operating water supply with the use of rainwater. The diploma thesis also includes the design of a sewage pumping station, grease trap, light liquid separator, infiltration equipment and rainwater tank. The theoretical part is focused on the issues of gray water and rainwater and subsequent use as operating water. Computational part and project part solves sewerage distribution, water supply and gas pipeline in the specified object. It is a partially basement object with five floors. The object includes a surgery, a cafe and a shopping place.

This dissertation explores factors that play a role in students' decisions to attend one Northern California Early College High School (NCECHS). It also examines how students perceive their experiences of their decision after they have enrolled. The history of the public education has long been marked by an achievement gap between White and Asian students and students from other ethnic groups. In spite of efforts to address this issue, the gap continues to widen. Early College High Schools (ECHS's) are examples of reform models that are developed to support student achievement among undeserved groups. Without an understanding of the factors that influence student decisions to attend ECHS's and an understanding of the ways students perceive their experiences in such schools; administrators and teachers in these schools are left to more or less "guess" at the most effective ways to structure curriculum and instruction. A qualitative analysis was used to explore student perception and experiences. A survey asked students to share the primary factors that influenced their decision to attend NCECHS, instead of a traditional public school. Findings from this research suggest that the participant's perceived costs and benefits were based on both personal preferences and rational choices. Some aspects of the program that were especially pleasing to students included having the opportunity to earn a high school diploma, earn college credit and earn an associate's degree at the same time. Many students expressed dissatisfaction and anxiety with attending this ECHS. Frustration with the college enrollment process, prerequisites, heavy workloads, time management, fear of academic failure, relationships with instructors and disassociation from friends were also among the findings of this study.

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The reported research provides a rough guide to the best practice of decision modeling concerning urban pipeline systems’ rehabilitation. The thesis aims to bring attention to the fact that a proper decision-making model is a cornerstone for efficient infrastructure management. More precisely, this thesis aims to increase the knowledge about applicable decision support methods by identifying relevant factors that should be considered in the decision-making process. This can, facilitate future rehabilitation attempts of existing urban infrastructure. A utility-based decision model was adopted for a water distribution network in Sweden to locate and rehabilitate leakages as an ultimate sign of failure. This was performed by implementing and evaluating a Bayesian decision model including the treatment of uncertainties in evaluating the best decision from a short-term perspective. Despite its simplicity, the result showed that the proposed model could facilitate problem-solving approaches when uncertainty is an issue. Considering the several interacting factors of services and the availability of information, the importance of problem structuring before applying a decision model was extensively acknowledged. As a result, a conceptual decision model was proposed to choose the most appropriate decision model applicable for a particular problem in the essence of deciding how to decide. The presented model illustrated the first steps of developing a theoretical framework for a rational yet practical decisionmaking. This approach, which is aimed to be further employed in rehabilitation strategies of urban pipelines, ensures that the chosen decision technique has explicitly considered different levels of uncertainty and would be the best-established solution for a particular type of problem, organization, and stakeholder. This effort may help the decision analysts define the problem and elicit objectives and values relatively early in the decision-making to ensure that decisions to be selected would support the desired outcomes, actions, and core values. Then, a critical evaluation of the decision strategy was presented by comparing the performed Bayesian approach with the proposed conceptual model. Then so, it was shown that the choice of the decision model is dissimilar if the presented specific basic components vary. This was performed by presenting two semi-fictitious case studies, exemplifying the framework’s importance in structuring the assessment of available means. / Forskningen som redovisas i denna uppsats utgör en översiktlig guide till en praktisktillämpning av beslutsmodellering gällande underhåll av urbana ledningssystem.Syftet med licentiatuppsatsen är att betona att en korrekt modell för beslutsfat-tande är nödvändig för en effektiv förvaltning av infrastruktur. Mer specifikt ärmålet att öka kunskapen om tillämpbara beslutsstödsmetoder genom att identifiera relevanta faktorer som bör beaktas i beslutsprocessen. Det förväntas underlätta framtida underhållsaktiveter för befintlig urban infrastruktur. En nyttobaserad beslutsmodell för åtgärdsplanering har applicerats på en del av ettsvenskt vattenledningssystem, där läckage är den kritiska händelse som hanteras.Modellen baserad på Bayesiansk beslutsteori har implementerats och utvärderatsmed avseende på hantering av osäkerheter och beslutsoptimering ur ett korttidsper-spektiv. Trots modellens enkelhet visar resultatet att den kan underlätta metodvalför problemlösning när det råder osäkerheter i förutsättningarna. Vikten av en tydlig och strukturerad problembeskrivning inför tillämpningen av enbeslutsmodell bekräftas, där beaktande av interaktioner mellan ibland flera faktoreri systemets funktion och den tillgängliga informationen är viktig. Som ett resultatföreslås en konceptuell metod för att välja den mest lämpliga beslutsmodellen förett specifikt problem med syftet att besluta hur man bör besluta. Den presenter-ade metoden utgör ett första steg i utvecklingen av ett teoretiskt ramverk för ettrationellt och samtidigt praktiskt beslutsfattande. Arbetet hjälper beslutsfattarenatt strukturera problemet och lyfta syftet och värden tidigt i beslutsfattandet föratt säkerställa att tagna beslut stödjer eftersökta utfall, åtgärder och kärnvärden. Vidare har en kritisk utvärdering av beslutsstrategier presenterats som en jämförelsemellan den Bayesianska beslutsmodellen och den konceptuella metoden. Den visaratt valet av beslutsmodell skiljer sig om de grundläggande förutsättningarna ärolika. Utvärderingen baseras på två semifiktiva fallstudier som visar på vikten avstrukturering i bedömningen av tillgänglig information och tillgängliga resurser. / <p>2022-10-24</p> / Mistra InfraMaint

Indiana University-Purdue University Indianapolis (IUPUI) / Women are underrepresented in science, technology, engineering, and math fields (STEM), especially in higher levels. Researchers term this phenomenon "the leaky pipeline." While the issue is well-documented in the literature, little is known about its antecedents. The current study offers insight into factors that relate to career choice and contribute to the lack of diversity in STEM fields by investigating how sense of belonging and psychological capital (PsyCap) influence important psychological, academic, and career outcomes for women in these fields. Female undergraduate STEM majors were recruited for participation at two times during the fall academic semester (N=182 at time one, N=86 at time two) and data were analyzed using correlation and regression. Results provide support for the influence of both sense of belonging and PsyCap as important correlates of an individual's academic and career making decisions. Specifically, PsyCap mediated the relationship between belonging and well-being and belonging and career outcomes of engagement and participants' intentions to apply to graduate programs in an unrelated major. In addition, PsyCap moderated the relationship between sense of belonging and participants' intentions to switch majors and intentions to apply to graduate programs in a field unrelated to their current major. An increased understanding of the factors that contribute to the leaky pipeline in STEM will serve as a basis for developing further research questions and targeting interventions.