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Title: Desarrollo de un protocolo de detección de CNVs relacionadas con cáncer de mama y ovario hereditario a partir de datos de NGS
Author: Sánchez Soler, Marina
Director: Brunel Montaner, Helena
Tutor: Merino Arranz, David
Others: Universitat Oberta de Catalunya
Keywords: breast cancer
NGS
CNV
Issue Date: Jun-2018
Publisher: Universitat Oberta de Catalunya
Abstract: The present project has focused on evaluating different tools to analyze germline CNVs from NGS data. To carry out this objective, the database with code EGAS00001002428 of the EGA platform was used, which contains the results of 96 samples evaluated by the TruSight Cancer panel (Illumina). The tools evaluated have been DECoN and panelcn.MOPS. The conclusions obtained show that both algorithms presented good performances in terms of sensitivity and specificity, with panelcn.MOPS being the best candidate to apply in the clinic since it has a sensitivity of 100%. Even so, more studies are needed to corroborate the results obtained to assess the implementation of this tool in the laboratory routine.
Language: Spanish
URI: http://hdl.handle.net/10609/81828
Appears in Collections:Bachelor thesis, research projects, etc.

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