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Title: Desenvolupament d'una aplicació web per a la generació de pedigrees mitjançant R i Shiny
Author: Montserrat Vázquez, Sara
Tutor: Fernandez, Guerau  
Others: Maceira, Marc  
Abstract: Family trees or pedigrees have proven to be a very useful tool for studying genetic diseases or conditions that are transmitted from one generation to another. In this project, a web application has been developed to facilitate the generation of pedigrees to health care professionals and researchers. This application has been created using mainly the Shiny R package. The generation of pedigrees has been based on the kinship2 package in which a series of modifications have been made with the aim of obtaining pedigrees that are more complete, customizable and that follow the symbology and nomenclature considered standard. The list of standard terms defined by the Human Phenotype Ontology (HPO) has been used to define the phenotypes to be represented in the pedigrees. The application displays tables that contain the names of the genes and diseases that have been related to the HPO terms of interest and which also provide links to the OMIM and Orphanet websites. All the information entered into the application is stored in a database, allowing users to access it again. The creation of user accounts with personal passwords allows each user to only have access to their information, ensuring the confidentiality of the data. The result obtained is a web application that is intuitive and easy to use, that allows users to generate fairly complete pedigrees and that, moreover, provides more information about the HPO terms of interest.
Keywords: pedigree
web applications
Document type: info:eu-repo/semantics/masterThesis
Issue Date: 4-Jan-2021
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Appears in Collections:Trabajos finales de carrera, trabajos de investigación, etc.

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