Identification of Pathogenic Copy Number Variants in Mexican Patients With Inherited Retinal Dystrophies Applying an Exome Sequencing Data‐Based Read‐Depth Approach
Our results indicate that bioinformatic analysis of ES data is a reliable method for pathogenic CNV detection and that it should be incorporated in cases with a negative or inconclusive molecular result after ES.
Authors
- Gerardo Fabian-Morales (ORCID: https://orcid.org/0000-0003-1501-3210)
- Froylan Garcia‐Martínez
- Vianey Ordoñez‐Labastida (ORCID: https://orcid.org/0000-0001-5544-3755)
- Juan Carlos Zenteno (ORCID: https://orcid.org/0000-0002-9716-8146)
- Luis Montes‐Almanza (ORCID: https://orcid.org/0000-0002-6601-3686)
Institutions
- Institute of Ophthalmology (MX)
- Universidad Autónoma del Estado de Morelos (MX)
- Universidad Nacional Autónoma de México (MX)
Publication Details
- Journal
- Molecular Genetics & Genomic Medicine
- Published
- 2024-10-01
- DOI
- https://doi.org/10.1002/mgg3.70019
- Citations
- 1
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.23
Funders
- Velux Stiftung