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Title: Integración de variantes genómicas en estructuras de proteínas
Author: Arenivar Díaz, Diego Alberto
Director: Fernández Isern, Guerau
Tutor: Marco Galindo, María Jesús
Keywords: VCF
Issue Date: 5-Jun-2018
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: In the big world of proteins, it is possible to present genomic variations which cause aminoacidic changes, this phenomenon can be associated with health problems, such as neuronal disorders, digestive system diseases, cardiovascular diseases, cancer, and a lot more health conditions. With the VCF (Variant Call Format) files, it¿s kind of easy to interpret what have been the genomic variations by position for a particular sequence. So, for this reason, in this project it is intended to locate the genomic variants within the 3D recreated structures directly using the PDB (Protein Data Bank) proteins available. Due this information, we created a web application mounted on Apache HTTP server with controlled public access, where it is possible to inject using HTML + PHP the VCF file with the amino acid changes for the PDB protein, and then be able to get the root mean square deviation (RMSD) between the original protein and the mutated protein using PyMOL as the main language. The mutated protein can be visualized in 3D and all the mutations can be analyzed with the zoomed images for the mutated residues. In addition, the system generates an alignment file in CLUSTALW file format. The tool is user friendly and easy to interpret. Definitely, this can be the beginning of a bigger project with a set of tools that can be offered to the physicians, which are going to be the main users.
Language: Spanish
Appears in Collections:Bachelor thesis, research projects, etc.

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