A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice

A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice

Abstract Background Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinica...

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Main Authors: Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo
Format: Article
Language:English
Published: BMC 2025-01-01
Series:Journal of Translational Medicine
Subjects:
Rare diseases
Genetic diagnosis
Next generation sequencing
Precision medicine
Research implementation
Genomic medicine
Online Access:https://doi.org/10.1186/s12967-025-06069-2
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