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Candidate gene prioritization using graph embedding

DO, Q.; LARMANDE, P.

2020-02-03 bioinformatics
10.1101/2020.02.03.927913 bioRxiv
Show abstract

Candidate genes prioritization allows to rank among a large number of genes, those that are strongly associated with a phenotype or a disease. Due to the important amount of data that needs to be integrate and analyse, gene-to-phenotype association is still a challenging task. In this paper, we evaluated a knowledge graph approach combined with embedding methods to overcome these challenges. We first introduced a dataset of rice genes created from several open-access databases. Then, we used the Translating Embedding model and Convolution Knowledge Base model, to vectorize gene information. Finally, we evaluated the results using link prediction performance and vectors representation using some unsupervised learning techniques.

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The top 8 journals account for 50% of the predicted probability mass.

50% of probability mass above

"Similar papers" are the closest papers from that journal in the model's embedding space. They show what the match is built on, but the ranking comes mostly from a classifier over the whole training set, not from these examples alone.