Abstract
Transthyretin Familial Amyloid Polyneuropathy (TTR-FAP) is a neurological genetic illness that inflicts severe symptoms after the onset occurs. Age of onset represents the moment a patient starts to experience the symptoms of a disease. An accurate prediction of this event can improve clinical and operational guidelines that define the work of doctors, nurses, and operational staff. In this work, we transform family trees into compact vectors, that is, embeddings, and handle these as input features to predict the age of onset of patients with TTR-FAP. Our purpose is to evaluate how information present in genealogical trees can be transformed and used to improve a regression-based setting for TTR-FAP age of onset prediction. Our results show that by combining manual and graph-embeddings features there is a decrease in the mean prediction error when there is less information regarding a patient’s family. With this work, we open the way for future work in representation learning for genealogical data, enabling a more effective exploitation of machine learning approaches.
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Acknowledgments
This work is financed by National Funds through the Portuguese funding agency, FCT - Fundação para a Ciência e a Tecnologia, within project LA/P/0063/2020 and by Centro Hospitalar do Porto (ChPorto).
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Pedroto, M., Jorge, A., Mendes-Moreira, J., Coelho, T. (2022). Improving the Prediction of Age of Onset of TTR-FAP Patients Using Graph-Embedding Features. In: Marreiros, G., Martins, B., Paiva, A., Ribeiro, B., Sardinha, A. (eds) Progress in Artificial Intelligence. EPIA 2022. Lecture Notes in Computer Science(), vol 13566. Springer, Cham. https://doi.org/10.1007/978-3-031-16474-3_16
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