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

European Journal of Human Genetics · Published 2026-06-26 · DOI 10.1038/s41431-026-02162-2

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Authors (22)

Clément Hersent, Lise Larrieu, Patricia Fergelot, Julie Miro, Mehdi Benkirane, Chloé Angelini, Francis Ramond, Cecilia Marelli, Isabelle Sabatier, Gaëtan Lesca, Christel Vaché, Mireille Cossée, Anne Bergougnoux, Klaus Dieterich, Christine Tranchant, Isabelle Marey, Anna Castrioto, Christel Thauvin-Robinet, Lydia Abou Haidar, François Rivier, Sylvie Tuffery-Giraud, Michel Koenig

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Publication details

Year

2026

Citation

Hersent, C., Larrieu, L., Fergelot, P., et al. (2026). Decoding splicing variants in high-throughput sequencing: a functional validation approach integrating deep learning tools. European Journal of Human Genetics. https://doi.org/10.1038/s41431-026-02162-2

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