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dc.contributor.advisorLeis Trabazo, María Rosaura
dc.contributor.advisorCouce Pico, María Luz
dc.contributor.authorRoca Otero, Iria
dc.date.accessioned2020-07-22T09:23:38Z
dc.date.available2020-07-22T09:23:38Z
dc.date.issued2020
dc.identifier.urihttp://hdl.handle.net/10347/23194
dc.description.abstractThe main focus of this thesis, presented as a compendium of research articles, is the optimization of the analysis of Next Generation Sequencing data in order to facilitate the diagnosis of rare diseases. For this goal, we present an appropach to prioritize single nucleotide variants and small insertions and deletions, not only in terms of their type and genomic position, but also in terms of the mutational tolerance of the gene encompassing them. We also evaluate the strengths and weakness of the currently published copy number variation (CNV) detection tools, and develop a methodology to create sinthetic samples with artificial CNVs to test them. Finally, we present a novel CNV-detection program, optimized for gene panel assays.
dc.language.isoeng
dc.rightsAttribution-NonCommercial-NoDerivatives 4.0 Internacional
dc.rights.urihttp://creativecommons.org/licenses/by-nc-nd/4.0/
dc.subjectGenetics
dc.subjectBiostatistics
dc.subjectBioinformatics
dc.subject.classification241007 Genética humana
dc.subject.classification240401 Bioestadística
dc.titleOptimization of statistical and bioinformatic methods for the analysis of next generation sequencing data for rare disease diagnosis
dc.typedoctoral thesis
dc.rights.accessRightsopen access
dc.contributor.affiliationUniversidade de Santiago de Compostela. Departamento de Ciencias Forenses, Anatomía Patolóxica, Xinecoloxía e Obstetricia, e Pediatría
dc.contributor.affiliationUniversidade de Santiago de Compostela. Centro Internacional de Estudos de Doutoramento e Avanzados (CIEDUS)
dc.contributor.affiliationUniversidade de Santiago de Compostela. Escola de Doutoramento Internacional en Ciencias da Saúde
dc.contributor.affiliationUniversidade de Santiago de Compostela. Programa de Doutoramento en Investigación Clínica en Medicina


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