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Browsing Departament de Genètica, Microbiologia i Estadística by Author "Aguirre Gómez, Josu"

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    Study of the components that determine the applicability of pathogenicity predictors in the clinical setting 

    Aguirre Gómez, Josu (Date of defense: 2020-07-14)

    The translation of Next Generation Sequencing (NGS) technologies from the research field to the clinical setting and, specifically, the results obtained in terms of diagnostic yield remain far from expected. This situation ...