Cas9-targeted-based long-read sequencing for genetic screening of RPE65 locus
In this study, we explore the advantages of using a targeted approach together with long-read sequencing to identify variants associated with IRD. The results underscore the utility of targeted long reads for characterizing patients affected by rare diseases when first-tier diagnostic tests are non-conclusive.
Authors
- Marta Cortón (ORCID: https://orcid.org/0000-0003-0087-1626)
- Lidia Fernández‐Caballero (ORCID: https://orcid.org/0000-0002-1048-9095)
- Pablo Mínguez (ORCID: https://orcid.org/0000-0003-4099-9421)
- Raquel Escutia Romero
- Cristina Rodilla
- Carmen Ayuso (ORCID: https://orcid.org/0000-0002-9242-7065)
- Gonzalo Núñez‐Moreno (ORCID: https://orcid.org/0000-0001-5982-570X)
- Yolanda Benítez (ORCID: https://orcid.org/0009-0001-8351-7835)
Institutions
- Instituto de Salud Carlos III (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-10-14
- DOI
- https://doi.org/10.3389/fgene.2024.1439153
- Citations
- 1
- Primary Topic
- CRISPR and Genetic Engineering
- Type
- article
- Field-Weighted Citation Impact
- 0.23