Cargando…
Defining Disease, Diagnosis, and Translational Medicine within a Homeostatic Perturbation Paradigm: The National Institutes of Health Undiagnosed Diseases Program Experience
Traditionally, the use of genomic information for personalized medical decisions relies on prior discovery and validation of genotype–phenotype associations. This approach constrains care for patients presenting with undescribed problems. The National Institutes of Health (NIH) Undiagnosed Diseases...
Ejemplares similares
-
Computational evaluation of exome sequence data using human and model organism phenotypes improves diagnostic efficiency
por: Bone, William P., et al.
Publicado: (2016) -
The implications of familial incidental findings from exome sequencing: The NIH Undiagnosed Diseases Program experience
por: Lawrence, Lauren, et al.
Publicado: (2014) -
Pharmacogenomic incidental findings in 308 families: The NIH Undiagnosed Disease Program experience
por: Lee, Elizabeth M.J., et al.
Publicado: (2016) -
Distributed Cognition and Process Management Enabling Individualized Translational Research: The NIH Undiagnosed Diseases Program Experience
por: Links, Amanda E., et al.
Publicado: (2016) -
GRIN2A mutation and early-onset epileptic encephalopathy: personalized therapy with memantine
por: Pierson, Tyler Mark, et al.
Publicado: (2014)