Revealing the impact of partial gene duplications in ASH1L: integration of optical genome mapping and RNA sequencing

Abstract Introduction Partial gene duplications are structural variants that are challenging to interpret, particularly in the context of neurodevelopmental disorders. The ASH1L gene, associated with autism spectrum disorders and cognitive impairment, exemplifies the complexity of such variants. Thi...

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Váldodahkkit:	Grégoire Blavier, François Lecoquierre, Anne-Marie Guerrot, Géraldine Joly Hélas, Stéphane Rondeau, Anne Boland, Jean-François Deleuze, Gaël Nicolas, Pascal Chambon, Kévin Cassinari
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	BMC 2025-12-01
Ráidu:	Molecular Cytogenetics
Fáttát:	Partial duplication Optical mapping CGH array Exome Autism ASH1L
Liŋkkat:	https://doi.org/10.1186/s13039-025-00740-5
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