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Title: Análisis de herramientas bioinformáticas para la detección de CNVs en muestras de pacientes mediante secuenciación de exoma completo (WES)
Author: Sevilla Romero, Enrique
Director: Ventura Royo, Carles  
Tutor: Maynou Fernández, Joan
Keywords: NGS
Issue Date: Jan-2019
Publisher: Universitat Oberta de Catalunya (UOC)
Abstract: In recent years, the next generation sequencing (NGS) has become the standard tool for the study of genetic variability. It has shown to have a huge potential to detect variations at the level of a single nucleotide (SNPs), insertions or deletions of 3 -4 nucleotides, as well as structural variations; balanced (inversions and translocations) and unbalanced (deletions and duplications). The sequencing of whole-exome sequencing (WES) has become the most suitable sequencing for the analysis of CNVs because we obtain a very good coverage of the regions of analysis at a lower cost. In this work, we have focused on the detection and analysis of these structural variations at the number of copies (CNVs) in samples sequenced by WES. Currently, there are two approaches for the detection of CNVs from WES somatic line data; one of them is the depth of coverage (COD) and the other is the Paired-End Mapper (PEM).
Language: Spanish
Appears in Collections:Bachelor thesis, research projects, etc.

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