Gel Moreno, BernatLázaro García, ConxiMoreno Cabrera, José MarcosUniversitat de Barcelona. Facultat de Medicina i Ciències de la Salut2021-09-072021-09-072021-06-17https://hdl.handle.net/2445/179899[eng] This PhD thesis has been carried out with the aim of improving, from a bioinformatic-based approach, the genetic diagnostics of hereditary cancer. More specifically, the aims were: 1. To perform a comprehensive evaluation of tools suitable for detecting CNVs from NGS panel data at single-exon resolution. 2. To select the best candidate tool to implement in the genetic diagnostics pipeline of the ICO-IGTP program on hereditary cancer. 3. After implementing it, to evaluate the impact of including the selected NGS CNV detection tool as a first-tier screening step prior to MLPA validation. 4. To develop a tool to identify false positives produced by germline NGS CNV detection tools. 5. To develop a web-based tool to support the entire diagnostic process during the laboratory routine.220 p.application/pdfengcc by-nc-nd (c) Moreno Cabrera, José Marcos, 2021http://creativecommons.org/licenses/by-nc-nd/3.0/es/OncologiaMalalties hereditàriesSeqüència de nucleòtidsBioinformàticaDiagnòsticOncologyGenetic diseasesNucleotide sequenceBioinformaticsDiagnosisinfo:eu-repo/semantics/doctoralThesisinfo:eu-repo/semantics/openAccesshttp://hdl.handle.net/10803/672364