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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...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2023
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| Materias: | |
| 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 |