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Article

A Multi-Strategy Sequencing Workflow in Inherited Retinal Dystrophies: Routine Diagnosis, Addressing Unsolved Cases and Candidate Genes Identification.

International journal of molecular sciences - 8 Dec 2020

Martín-Sánchez Marta, Bravo-Gil Nereida, González-Del Pozo María, Méndez-Vidal Cristina, Fernández-Suárez Elena, Rodríguez-de la Rúa Enrique, Borrego Salud, Antiñolo Guillermo

Abstract excerpt

The management of unsolved inherited retinal dystrophies (IRD) cases is challenging since no standard pipelines have been established. This study aimed to define a diagnostic algorithm useful for the diagnostic routine and to address unsolved cases. Here, we applied a Next-Generation Sequencing-based workflow, including a first step of panel sequencing (PS) followed by clinical-exome sequencing (CES) and...

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Identifiers

PMID: 33302505
DOI: 10.3390/ijms21249355
PMCID: PMC7763277

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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