Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools

European Journal of Human Genetics 2026 Open access

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Authors: Clément Hersent, Lise Larrieu, Patricia Fergelot, Julie Miro, Mehdi Benkirane, Chloé Angelini, Francis Ramond, Cécilia Marelli, Isabelle Sabatier, Gaëtan Lesca, Christel Vaché, Mireille Cossée
+10 more Anne Bergougnoux, Klaus Dieterich, Christine Tranchant, Isabelle Marey, Anna Castrioto, Christel Thauvin‐Robinet, Lydia Abou Haidar, François Rivier, Sylvie Tuffery‐Giraud, Michel Koenig
DOI: 10.1038/s41431-026-02162-2
Cited by: 1
References: 29

Fields of Study & Subjects

Genomics and Rare Diseases Genomics and Phylogenetic Studies Genetic Neurodegenerative Diseases

Publication details

Journal / source
European Journal of Human Genetics
Publisher
Springer Science and Business Media LLC
Volume
34
Issue
8
Pages
1165–1175
Publication date
26 June 2026
Language
EN