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Applying the Clinician-reported Genetic testing Utility InDEx (C-GUIDE) to genome sequencing: further evidence of validity

Genome sequencing (GS) outperforms other rare disease diagnostics, but standardized approaches to assessing its clinical utility are limited. This study assessed the validity of the Clinician-reported Genetic testing Utility InDEx (C-GUIDE), a novel tool for assessing the utility of genetic testing...

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Detalles Bibliográficos
Autores principales: Hayeems, Robin Z., Luca, Stephanie, Hurst, Anna C. E., Cochran, Meagan, Owens, Chelsea, Hossain, Alomgir, Chad, Lauren, Meyn, M. Stephen, Pullenayegum, Eleanor, Ungar, Wendy J., Bick, David
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer International Publishing 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9712646/
https://www.ncbi.nlm.nih.gov/pubmed/36195708
http://dx.doi.org/10.1038/s41431-022-01192-w