Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing
These findings challenge conventional views on the functional consequences of structural variants. The study demonstrates the capability of OGM to uncover complex genomic rearrangements that evade detection by traditional methods. Integrating advanced genomic tools enhances diagnostic precision and broadens our understanding of the pathogenicity of structural variants in developmental disorders.
Authors
- François Lecoquierre (ORCID: https://orcid.org/0000-0002-9110-1856)
- Jean‐François Deleuze (ORCID: https://orcid.org/0000-0002-5358-4463)
- Kévin Cassinari (ORCID: https://orcid.org/0000-0003-2683-4073)
- Géraldine Joly Helas
- Pascal Chambon (ORCID: https://orcid.org/0000-0002-9040-3051)
- Gaël Nicolas (ORCID: https://orcid.org/0000-0001-9391-7800)
- Stéphane Rondeau (ORCID: https://orcid.org/0000-0002-3182-6636)
- Anne-Marie Guerrot
- Anne Boland
- Grégoire Blavier
Institutions
- Inserm (FR)
- Commissariat à l'Énergie Atomique et aux Énergies Alternatives (FR)
- Université Paris-Saclay (FR)
- Centre National de Recherche en Génomique Humaine (FR)
- Normandie Université (FR)
- CEA Paris-Saclay (FR)
- Centre Hospitalier Universitaire de Rouen (FR)
- Génomique du cancer et du cerveau
- Université de Rouen Normandie (FR)
Publication Details
- Journal
- Molecular Cytogenetics
- Published
- 2025-12-02
- DOI
- https://doi.org/10.1186/s13039-025-00740-5
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00