Whole-exome sequencing to identify causative variants in juvenile sudden cardiac death
This study highlights the efficacy of a multidisciplinary approach employing WES and a tailored virtual gene panel to elucidate the aetiology of juvenile SCD. The findings support the expansion of genetic testing using tailored gene panels and prioritization schemes as part of routine autopsy evaluations to improve the identification of causative variants and potentially facilitate early diagnosis in first-degree relatives.
Authors
- Andrea Scatena (ORCID: https://orcid.org/0000-0001-8727-9769)
- Martina Modena (ORCID: https://orcid.org/0000-0003-0555-542X)
- Michele Emdin (ORCID: https://orcid.org/0000-0002-8541-1962)
- Nicoletta Botto (ORCID: https://orcid.org/0000-0002-8336-3610)
- Diana Bonuccelli
- Alberto Giannoni (ORCID: https://orcid.org/0000-0001-9314-2005)
- Paolo Aretini (ORCID: https://orcid.org/0000-0003-1075-4319)
- Alberto Aimo (ORCID: https://orcid.org/0000-0001-9129-9519)
- Simona Vittorini
- Marco Di Paolo (ORCID: https://orcid.org/0000-0002-3595-4723)
Institutions
- University of Pisa (IT)
- Scuola Superiore Sant'Anna (IT)
- Fondazione Pisa (IT)
- Azienda Usl Toscana Centro (IT)
- Fondazione Toscana Gabriele Monasterio (IT)
Publication Details
- Journal
- Human Genomics
- Published
- 2024-09-16
- DOI
- https://doi.org/10.1186/s40246-024-00657-x
- Citations
- 10
- Primary Topic
- Cardiac electrophysiology and arrhythmias
- Type
- article
- Field-Weighted Citation Impact
- 4.02
Funders
- Fondazione Pisa