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http://hdl.handle.net/10609/97366
Title: | Evaluación de diferentes herramientas de detección de variantes puntuales (SNV eINDELS) sobre datos de secuenciación masiva procedentes de exoma |
Author: | Candeal Núñez, Eduardo |
Tutor: | Maynou Fernández, Joan |
Others: | Canovas Izquierdo, Javier Luis |
Abstract: | The present work is based on the evaluation of different tools for the variant calling detection, single nucleotide Variant (SNV) and insertions and deletions (INDEL) in the data of Exome sequencing from Homo sapiens with the platform of Illumina HiSeq. For this purpose, the control sample NA12878 from "Genome project in a bottle" was used which is used as standard in this type of studies, as well as its standard genotype, and finally the GRCH37 as the reference genome. |
Keywords: | NGS germinal mutation VCF |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | 4-Jun-2019 |
Publication license: | http://creativecommons.org/licenses/by-nc/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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ecandealTM0619memoria.pdf | Memoria del TFM | 629,3 kB | Adobe PDF | View/Open |
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