# name
A translational bioinformatics approach to improve genetic diagnostics of hereditary cancer using next-generation sequencing data

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Universitat de Barcelona. Facultat de Medicina i Ciències de la Salut

# metadata.dc.description.abstract[].value
[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.

# metadata.dc.rights[].value
cc by-nc-nd (c) Moreno Cabrera, José Marcos, 2021

# metadata.dc.source[].value
Tesis Doctorals - Facultat - Medicina i Ciències de la Salut

# metadata.dc.title[].value
A translational bioinformatics approach to improve genetic diagnostics of hereditary cancer using next-generation sequencing data