PhenoLinker: Phenotype-Gene Link Prediction and Explanation using Heterogeneous Graph Neural Networks

• URL: http://arxiv.org/abs/2402.01809v1
• Date: Fri, 2 Feb 2024 11:35:21 GMT
• Title: PhenoLinker: Phenotype-Gene Link Prediction and Explanation using Heterogeneous Graph Neural Networks
• Authors: Jose L. Mellina Andreu, Luis Bernal, Antonio F. Skarmeta, Mina Ryten, Sara \'Alvarez, Alejandro Cisterna Garc\'ia, Juan A. Bot\'ia
• Abstract summary: We present PhenoLinker, capable of associating a score to a phenotype-gene relationship by using heterogeneous information networks and a convolutional neural network-based model for graphs. This system can aid in the discovery of new associations and in the understanding of the consequences of human genetic variation.
• Score: 38.216545389032234
• License: http://creativecommons.org/licenses/by/4.0/
• Abstract: The association of a given human phenotype to a genetic variant remains a critical challenge for biology. We present a novel system called PhenoLinker capable of associating a score to a phenotype-gene relationship by using heterogeneous information networks and a convolutional neural network-based model for graphs, which can provide an explanation for the predictions. This system can aid in the discovery of new associations and in the understanding of the consequences of human genetic variation.

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