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http://hdl.handle.net/10609/82405
Title: | Diseño de una herramienta para el filtrado y anotación de variantes genómicas |
Author: | Barroso Bergadà, Didac |
Tutor: | Castellanos, Elisabeth |
Others: | Ventura, Carles |
Abstract: | In this work we have developed a tool that allows us to manage large VCF files efficiently and provide the users with the necessary information so that they can select which variants they want to obtain through a robust filtering system. In addition, the users can include new information through different annotation systems. After the management of the VCF file, a table with the resulting variants in a readable format is obtained. To facilitate interaction between the users and the tool, a web application has been developed. Through this application, the users define all the necessary parameters for import, filtering and annotation. To verify the correct functioning of the tool, parallel different filtering and annotation processes have been carried out to validate that the results obtained are correct. |
Keywords: | VCF NGS genomic varieties |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 5-Jun-2018 |
Publication license: | http://creativecommons.org/licenses/by-nc-sa/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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dbarrosobeTFM0618memoria.pdf | Memoria del TFM | 2,98 MB | Adobe PDF | View/Open |
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