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

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...

Full description

Saved in:
Bibliographic Details
Main Authors: Fabiana D’Esposito, Matteo Capobianco, Caterina Gagliano, Alessandro Avitabile, Giuseppe Gagliano, Gabriella Esposito, Edoardo Dammino, Antonio Carotenuto, Marco Zeppieri
Format: Article
Language:English
Published: MDPI AG 2025-05-01
Series:Biomedicines
Subjects:
next generation sequencing NGS
NGS incidental findings
NGS secondary findings
inherited retinal dystrophies
genotype–phenotype correlation
molecular diagnosis
Online Access:https://www.mdpi.com/2227-9059/13/5/1117
Tags: Add Tag
No Tags, Be the first to tag this record!

Similar Items

Similar Items