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Title: Semi-automatización del proceso de clasificación de variantes en cáncer hereditario
Author: Arnaldo Orts, Laura
Tutor: Mosquera, Jose Luis  
Others: Feliubaló, Lídia
Abstract: The classification of variants in hereditary cancer is based on the application of a set of evidence of pathogenicity and benignity established by international organizations. Currently, compliance with these evidences is determined manually, being a long and tedious job. In this project, a tool has been developed that semi-automates this process. This resource collects information from 6 open access sources and uses it to calculate a set of 11 pieces of evidence. The tool consists of a document in .xlsx, called Template, and three programs developed in R: (1) Program1 calculates the automatable evidences and provides a provisional classification verdict that is collected in the classification file of the variant, created based on to the Template document, (2) ProgramaBateria is an extension of Programa1 for a list of variants, and (3) once the user has reviewed and completed the classification file issued by any of the previous programs, Programa2 (re) calculates the evidences and renders an improved classification verdict. The process has been semi-automated for variants of the type: silent, missense, nonsense, frameshift, small deletions and in-frame insertions and variants that affect the start codon. In the case of variants that affect splicing, the calculation of the most complex evidence has been automated. A manual has also been prepared that summarizes the program's characteristics, functions, and how to use it, as a guide for the user and to support future updates.
Keywords: semi-automation
variant classification
hereditary cancer
Document type: info:eu-repo/semantics/masterThesis
Issue Date: 5-Jan-2021
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Appears in Collections:Trabajos finales de carrera, trabajos de investigación, etc.

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