Gene prioritisation for enhancing molecular diagnosis in rare skeletal muscle disease cohort
Exomiser is recommended for initial and periodic reanalyses of exomes in unsolved patients with myopathy, as it benefits from literature updates and minimises effort. This approach could also extend to whole genome sequencing data, aiding the interpretation of variants beyond coding regions.
Authors
- Mridul Johari (ORCID: https://orcid.org/0000-0002-3549-558X)
- Aleš Maver (ORCID: https://orcid.org/0000-0002-9826-0534)
- Peter Hackman (ORCID: https://orcid.org/0000-0001-7890-5713)
- Vincenzo Nigro (ORCID: https://orcid.org/0000-0002-3378-5006)
- Victoria Lillback (ORCID: https://orcid.org/0009-0000-3092-5520)
- Filippo Maria Santorelli (ORCID: https://orcid.org/0000-0002-1359-9062)
- Maria Francesca Di Feo (ORCID: https://orcid.org/0000-0002-4090-9521)
- Gaber Bergant (ORCID: https://orcid.org/0000-0003-4498-1042)
- Marco Savarese (ORCID: https://orcid.org/0000-0002-2591-244X)
- Bjarne Udd (ORCID: https://orcid.org/0000-0002-1101-9730)
- Katarina Pelin (ORCID: https://orcid.org/0000-0002-7040-7266)
- Annalaura Torella (ORCID: https://orcid.org/0000-0003-2479-6018)
- Ivana Babič Božović (ORCID: https://orcid.org/0000-0002-6071-4430)
- Borut Peterlin
Institutions
- University of Ljubljana (SI)
- University of Campania "Luigi Vanvitelli" (IT)
- Ljubljana University Medical Centre (SI)
- Tampere University Hospital (FI)
- Fondazione Stella Maris (IT)
- Tampere University (FI)
- Telethon Institute Of Genetics And Medicine (IT)
- Folkhälsans Forskningscentrum (FI)
- University of Genoa (IT)
Publication Details
- Journal
- Journal of Medical Genetics
- Published
- 2025-03-05
- DOI
- https://doi.org/10.1136/jmg-2024-110212
- Citations
- 1
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 1.82