Translating Muscle <scp>RNAseq</scp> Into the Clinic for the Diagnosis of Muscle Diseases
We demonstrate the utility of RNAseq in identifying causative variants in muscle diseases. Evaluation of four aberrant splicing tools allowed efficient identification of most pathogenic splicing events, obtaining a manageable number of candidate events for manual inspection, demonstrating feasibility for translation into a clinical setting. We also show how the integration of omic technologies reduces the turnaround time to identify causative variants.
Authors
- C. Jimenez‐Mallebrera (ORCID: https://orcid.org/0000-0001-8203-7103)
- Montse Olivé (ORCID: https://orcid.org/0000-0001-5727-0165)
- Lidia González‐Quereda (ORCID: https://orcid.org/0000-0003-0715-6414)
- Velina Nedkova
- Benjamín Rodríguez‐Santiago (ORCID: https://orcid.org/0000-0003-1167-3852)
- Solange Kapetanovic
- Arístides López‐Márquez (ORCID: https://orcid.org/0000-0002-0124-3261)
- Cristina Domínguez‐González (ORCID: https://orcid.org/0000-0001-5151-988X)
- C. Ortez (ORCID: https://orcid.org/0000-0001-8187-8103)
- Berta Estévez‐Arias (ORCID: https://orcid.org/0000-0002-1711-7489)
- A. Nascimento (ORCID: https://orcid.org/0000-0003-4952-5732)
- Itxaso Martì (ORCID: https://orcid.org/0000-0003-0578-9568)
- Alba Segarra‐Casas (ORCID: https://orcid.org/0000-0001-5185-5031)
- Eduard Gallardo (ORCID: https://orcid.org/0000-0002-3942-3436)
- Laura González (ORCID: https://orcid.org/0000-0001-5691-0343)
- Raúl Juntas‐Morales (ORCID: https://orcid.org/0000-0003-2205-1741)
- Laura Llansó (ORCID: https://orcid.org/0000-0003-4950-7657)
- Roberto Fernández‐Torrón (ORCID: https://orcid.org/0000-0002-2202-8165)
- Daniel Natera‐de Benito (ORCID: https://orcid.org/0000-0001-7764-2085)
- Cristina Jou (ORCID: https://orcid.org/0000-0002-2223-7880)
- Jordi Surrallés (ORCID: https://orcid.org/0000-0002-4041-7519)
- P. Gallano (ORCID: https://orcid.org/0000-0001-8104-2197)
- María José Gómez-Rodríguez (ORCID: https://orcid.org/0000-0001-8037-3429)
- Aurelio Hernández‐Laín (ORCID: https://orcid.org/0000-0002-1933-2238)
- Adolfo López‐de Munain
Institutions
- Universitat Autònoma de Barcelona (ES)
- Hospital Sant Joan de Déu Barcelona (ES)
- Universidad de Deusto (ES)
- University of the Basque Country (ES)
- Instituto de Salud Carlos III (ES)
- Hospital de Sant Pau (ES)
- Bellvitge University Hospital (ES)
- Biomedical Research Networking Center on Neurodegenerative Diseases (ES)
- Institut d'Investigació Biomédica de Bellvitge (ES)
- BioCruces Health research Institute (ES)
- Hospital de Basurto (ES)
- Biogipuzkoa Health Research Institute (ES)
- Hospital Universitario 12 De Octubre (ES)
- Centre for Biomedical Network Research on Rare Diseases (ES)
- Hospital Universitario HM Madrid (ES)
- ERN GUARD-Heart (NL)
- Onkologikoa (ES)
- Institut de Recerca Sant Joan de Déu
- Universitat de Barcelona (ES)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2025-05-25
- DOI
- https://doi.org/10.1002/acn3.70078
- Citations
- 4
- Primary Topic
- RNA Research and Splicing
- Type
- article
- Field-Weighted Citation Impact
- 3.22
Funders
- European Commission
- Generalitat de Catalunya
- Agència de Gestió d'Ajuts Universitaris i de Recerca
- Instituto de Salud Carlos III