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http://hdl.handle.net/10609/97126
Title: | Herramienta web para la priorización de variantes de tipo INDEL y SNV obtenidas mediante NGS |
Author: | Castro Blanco, Elisabet |
Tutor: | Maynou Fernández, Joan |
Others: | Canovas Izquierdo, Javier Luis |
Abstract: | The ease of sequencing DNA in a short period of time with an affordable cost, has facilitated the identification of small variants within the genome. The management of all this data requires bioinformatic knowledge. The lack of such knowledge among hospital staff, makes applications with graphical interface that performs prioritization very important. The objective of this work is to create a web application that allows the prioritization of variants through a graphical interface. To do this, we had use the R language for the processing and prioritization of the variants, also we used the Shiny package to make the interactive web application. The web application is organized in three tabs, which allows the user to upload their annotated files. If it's a familiar case, allows the user to select an inheritance model. After processing, through the prioritization parameters implemented, it is possible to greatly reduce the number of possible variants. The future lines of work, in order to improve the application, are oriented to increase the number of parameters, that the user can control and the possibility of exporting the results of the prioritization in VCF format. |
Keywords: | NGS variants prioritisation |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | Jun-2019 |
Publication license: | http://creativecommons.org/licenses/by-nc-nd/3.0/es/ |
Appears in Collections: | Trabajos finales de carrera, trabajos de investigación, etc. |
Files in This Item:
File | Description | Size | Format | |
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ecastroblTFM0619memoria.pdf | Memoria del TFM | 1,13 MB | Adobe PDF | View/Open |
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