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Determining the utility of diagnostic genomics: a conceptual framework

BACKGROUND: Diagnostic efficacy is now well established for diagnostic genomic testing in rare disease. Assessment of overall utility is emerging as a key next step, however ambiguity in the conceptualisation and measurement of utility has impeded its assessment in a comprehensive manner. We propose...

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Detalles Bibliográficos
Autores principales:	Mallett, Andrew, Stark, Zornitza, Fehlberg, Zoe, Best, Stephanie, Goranitis, Ilias
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2023
Materias:	Perspective
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10433656/ https://www.ncbi.nlm.nih.gov/pubmed/37587497 http://dx.doi.org/10.1186/s40246-023-00524-1

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