Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach

Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach

ABSTRACT Background Retinal dystrophies (RDs) are the most common cause of inherited blindness worldwide and are caused by genetic defects in about 300 different genes. While targeted next‐generation sequencing (NGS) has been demonstrated to be a reliable and efficient method to identify RD disease‐...

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Bibliographic Details
Main Authors: Gerardo E. Fabian‐Morales, Vianey Ordoñez‐Labastida, Froylan Garcia‐Martínez, Luis Montes‐Almanza, Juan C. Zenteno
Format: Article
Language:English
Published: Wiley 2024-10-01
Series:Molecular Genetics & Genomic Medicine
Subjects:
copy number variation
deletion
exome sequencing
retinal dystrophy
Online Access:https://doi.org/10.1002/mgg3.70019

Internet

https://doi.org/10.1002/mgg3.70019

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