Long-Read Whole-Genome Sequencing as a Tool for Variant Detection in Inherited Retinal Dystrophies
Advances in whole-genome sequencing (WGS) have significantly enhanced our ability to detect genomic variants underlying inherited diseases. In this study, we performed long-read WGS on 24 patients with inherited retinal dystrophies (IRDs) to validate the utility of nanopore sequencing in detecting genomic variations. We confirmed the presence of all previously detected variants and demonstrated that this approach allows for the precise refinement of structural variants (SVs). Furthermore, we could perform genotype phasing by sequencing only the probands, confirming that the variants were inherited in trans. Moreover, nanopore sequencing enables the detection of complex variants, such as transposon insertions and structural rearrangements. This comprehensive assessment illustrates the power of long-read sequencing in capturing diverse forms of genomic variation and in improving diagnostic accuracy in IRDs.
Authors
- Fiona Blanco‐Kelly (ORCID: https://orcid.org/0000-0003-0052-5651)
- Marc Délepine
- Marta Cortón (ORCID: https://orcid.org/0000-0003-0087-1626)
- Marta Del Pozo‐Valero (ORCID: https://orcid.org/0000-0003-3934-0873)
- Cédric Fund
- Lidia Fernández‐Caballero (ORCID: https://orcid.org/0000-0002-1048-9095)
- Pablo Mínguez (ORCID: https://orcid.org/0000-0003-4099-9421)
- Jean‐François Deleuze (ORCID: https://orcid.org/0000-0002-5358-4463)
- Olga Zurita
- Aurélie Leduc
- Cristina Rodilla
- Irene Perea‐Romero (ORCID: https://orcid.org/0000-0002-6402-4891)
- Carmen Ayuso (ORCID: https://orcid.org/0000-0002-9242-7065)
- Claire Jubin
- Cristina Villaverde
- Gema García‐García (ORCID: https://orcid.org/0000-0002-2113-0600)
- Gonzalo Núñez‐Moreno (ORCID: https://orcid.org/0000-0001-5982-570X)
- Marta Rodríguez de Alba
- José M. Millán (ORCID: https://orcid.org/0000-0002-7211-9129)
- Yolanda Benítez (ORCID: https://orcid.org/0009-0001-8351-7835)
- Mar Balanzá
- Aroa López-Alcojor
Institutions
- Université Paris-Saclay (FR)
- Instituto de Salud Carlos III (ES)
- Centre National de Recherche en Génomique Humaine (FR)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario Fundación Jiménez Díaz (ES)
- Universidad Autónoma de Madrid (ES)
Publication Details
- Journal
- International Journal of Molecular Sciences
- Published
- 2025-04-18
- DOI
- https://doi.org/10.3390/ijms26083825
- Citations
- 1
- Primary Topic
- Advanced biosensing and bioanalysis techniques
- Type
- article
- Field-Weighted Citation Impact
- 0.81
Funders
- Comunidad de Madrid
- Ministerio de Ciencia, Innovación y Universidades