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http://hdl.handle.net/10609/120386
Title: | Impacto en la clínica del uso de diferentes genomas de referencia en la llamada de variantes |
Author: | Salvador Escribano, Pedro |
Tutor: | Villanueva Cañas, José Luis |
Others: | Ventura, Carles Maceira, Marc |
Abstract: | The lowering of the sequencing costs by NGS, together with the speed with which this type of technique can be carried out, has allowed its use as a diagnostic technique. During the variant calling, differences are sought between the genetic sequence of the analyzed individual and a reference genome. The choice of this reference genome can condition the results obtained. Since numerous SNVs have been described that are considered risk factors for various pathologies, the accuracy of their detection is of crucial importance. This work analyzes the clinical relevance of the possible differences in the identification of variants caused by the choice of one or another reference genome. For this, the variant calling was carried out in samples from NGS exome sequencing, using the reference genomes hg19 and hg38, after which the differences obtained in each of the analysis were quantified and variants whose detection differed with the use of the different reference genomes were classified according to different criteria, after which, it was concluded that the use of hg38 as a reference genome is recommended during the variant calling for clinical purposes. |
Keywords: | variant calling reference genomes next generation sequencing |
Document type: | info:eu-repo/semantics/masterThesis |
Issue Date: | Jun-2020 |
Publication license: | http://creativecommons.org/licenses/by-nc-nd/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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pedrosalvadorTFM0620memoria.pdf | Memoria del TFM | 1,24 MB | Adobe PDF | View/Open |
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