Translational Diagnostics: An In-House Pipeline to Validate Genetic Variants in Children with Undiagnosed and Rare Diseases

• Published in: The Journal of molecular diagnostics : JMD Vol. 23; no. 1; pp. 71 - 90
• Main Authors: Pijuan, Jordi, Rodríguez-Sanz, María, Natera-de Benito, Daniel, Ortez, Carlos, Altimir, Arola, Osuna-López, Mireia, Roura, Montserrat, Ugalde, Maddi, Van de Vondel, Liedewei, Reina-Castillón, Judith, Fons, Carme, Benítez, Raúl, Nascimento, Andrés, Hoenicka, Janet, Palau, Francesc
• Format: Journal Article
• Language: English
• Published: United States 01.01.2021

Diagnosis is essential for the management and treatment of patients with rare diseases. In a group of patients, the genetic study identifies variants of uncertain significance or inconsistent with the phenotype; therefore, it is urgent to develop novel strategies to reach the definitive diagnosis. H...