Keep an Eye on Next Generation Sequencing (NGS) Technology: Secondary Findings and Differential Diagnosis in Inherited Retinal Dystrophies (IRDs)

<b>Background</b>: Next Generation Sequencing (NGS) Technology has represented a revolution in the molecular characterization of Inherited Retinal Dystrophies (IRDs), which are among the most genetically and phenotypically heterogeneous conditions. NGS has allowed the characterization of a consisten...

Ausführliche Beschreibung

Bibliografische Detailangaben

Hauptverfasser:	Fabiana D’Esposito, Matteo Capobianco, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Gabriella Esposito, Edoardo Dammino, Antonio Carotenuto, Marco Zeppieri
Format:	Artigo
Sprache:	Inglês
Veröffentlicht:	MDPI AG 2025-05-01
Schriftenreihe:	Biomedicines
Schlagworte:	next generation sequencing NGS NGS incidental findings NGS secondary findings inherited retinal dystrophies genotype–phenotype correlation molecular diagnosis
Online-Zugang:	https://www.mdpi.com/2227-9059/13/5/1117
Tags:	Tag hinzufügen Keine Tags, Fügen Sie das erste Tag hinzu!