Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models

Tijs van Lieshout; Carlos G. Urzúa-Traslaviña; Lucía Barbadilla-Martínez; Minh Chau Luong Boi; Harm-Jan Westra; Noud H.M. Klaassen; Vinícius H. Franceschini-Santos; Miguel Parra-Martínez; Jeroen de Ridder; Bas van Steensel; Emile Voest; Lude H. Franke

doi:10.1101/2025.05.06.25327057

Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models

Tijs van Lieshout
, Carlos G. Urzúa-Traslaviña
, Lucía Barbadilla-Martínez
, Minh Chau Luong Boi
, Harm-Jan Westra
, Noud H.M. Klaassen
, Vinícius H. Franceschini-Santos
, Miguel Parra-Martínez
, Jeroen de Ridder^*
, Bas van Steensel^*
, Emile Voest^*
, Lude H. Franke^*

^*Corresponding author for this work

Groningen Institute for Gastro Intestinal Genetics and Immunology (3GI)

Research output: Working paper › Preprint › Academic

Original language	English
Publisher	MedRxiv
DOIs	https://doi.org/10.1101/2025.05.06.25327057
Publication status	Published - 2025

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van Lieshout, T., Urzúa-Traslaviña, C. G., Barbadilla-Martínez, L., Luong Boi, M. C., Westra, H.-J., Klaassen, N. H. M., Franceschini-Santos, V. H., Parra-Martínez, M., de Ridder, J., van Steensel, B., Voest, E., & Franke, L. H. (2025). Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models. MedRxiv. https://doi.org/10.1101/2025.05.06.25327057

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author = "\{van Lieshout\}, Tijs and Urz{\'u}a-Traslavi{\~n}a, \{Carlos G.\} and Luc{\'i}a Barbadilla-Mart{\'i}nez and \{Luong Boi\}, \{Minh Chau\} and Harm-Jan Westra and Klaassen, \{Noud H.M.\} and Franceschini-Santos, \{Vin{\'i}cius H.\} and Miguel Parra-Mart{\'i}nez and \{de Ridder\}, Jeroen and \{van Steensel\}, Bas and Emile Voest and Franke, \{Lude H.\}",

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van Lieshout, T , Urzúa-Traslaviña, CG, Barbadilla-Martínez, L, Luong Boi, MC, Westra, H-J, Klaassen, NHM, Franceschini-Santos, VH, Parra-Martínez, M, de Ridder, J, van Steensel, B, Voest, E & Franke, LH 2025 'Identification of (ultra-)rare functional promoter mutations in cancer using sequence-based deep learning models' MedRxiv. https://doi.org/10.1101/2025.05.06.25327057

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AU - Urzúa-Traslaviña, Carlos G.

AU - Barbadilla-Martínez, Lucía

AU - Luong Boi, Minh Chau

AU - Westra, Harm-Jan

AU - Klaassen, Noud H.M.

AU - Franceschini-Santos, Vinícius H.

AU - Parra-Martínez, Miguel

AU - de Ridder, Jeroen

AU - van Steensel, Bas

AU - Voest, Emile

AU - Franke, Lude H.

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