Ending diagnostic odyssey by reanalysis of whole exome sequencing data: reclassification of suspected Fanconi anemia cases to dyskeratosis congenita and Diamond-Blackfan anemia
This study underscores the clinical value of reanalyzing existing genomic data in unresolved suspected genetic disorders, even when phenotype-specific assays are negative. The 33.3% diagnostic yield aligns with gains from larger reanalysis studies (10-25%). Systematic reassessment after sufficient time (24 + months) for genomic advancements offers a cost-effective diagnostic approach for long-undiagnosed cases, highlighting the dynamic nature of genomic interpretation as gene-disease understanding evolves.
Authors
- María Carla Piazzon de Haro (ORCID: https://orcid.org/0000-0002-7736-1096)
- Benjamín Rodríguez‐Santiago (ORCID: https://orcid.org/0000-0003-1167-3852)
- Eudald Tejero
- Jordi Surrallés (ORCID: https://orcid.org/0000-0002-4041-7519)
- Massimo Bogliolo (ORCID: https://orcid.org/0000-0001-8240-7784)
- Roser Pujol
Institutions
- Universitat Autònoma de Barcelona (ES)
- Hospital de Sant Pau (ES)
- Instituto de Investigación de Enfermedades Raras (ES)
Publication Details
- Journal
- Orphanet Journal of Rare Diseases
- Published
- 2025-10-14
- DOI
- https://doi.org/10.1186/s13023-025-03928-5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fundació la Marató de TV3
- Ministerio de Ciencia, Innovación y Universidades
- European Commission
- Institució Catalana de Recerca i Estudis Avançats
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- Instituto de Salud Carlos III
- Agencia Estatal de Investigación