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

The Journal of molecular diagnostics : JMD - 1 Jan 2021

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

Abstract excerpt

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. Herein, we develop the in-house Translational Diagnostics Program (TDP) to validate genetic variants as part of the...

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PMID: 33223419
DOI: 10.1016/j.jmoldx.2020.10.006

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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