Gene2vec: distributed representation of genes based on co-expression

BMC Genomics. 2019 Feb 4;20(Suppl 1):82. doi: 10.1186/s12864-018-5370-x.

Abstract

Background: Existing functional description of genes are categorical, discrete, and mostly through manual process. In this work, we explore the idea of gene embedding, distributed representation of genes, in the spirit of word embedding.

Results: From a pure data-driven fashion, we trained a 200-dimension vector representation of all human genes, using gene co-expression patterns in 984 data sets from the GEO databases. These vectors capture functional relatedness of genes in terms of recovering known pathways - the average inner product (similarity) of genes within a pathway is 1.52X greater than that of random genes. Using t-SNE, we produced a gene co-expression map that shows local concentrations of tissue specific genes. We also illustrated the usefulness of the embedded gene vectors, laden with rich information on gene co-expression patterns, in tasks such as gene-gene interaction prediction.

Conclusions: We proposed a machine learning method that utilizes transcriptome-wide gene co-expression to generate a distributed representation of genes. We further demonstrated the utility of our distribution by predicting gene-gene interaction based solely on gene names. The distributed representation of genes could be useful for more bioinformatics applications.

Keywords: Distributed representation; Embedding; Gene co-expression; Gene-gene interaction; Gene2Vec; Word2vec.

MeSH terms

  • Algorithms
  • Computational Biology / methods*
  • Computational Biology / standards
  • Epistasis, Genetic
  • Gene Expression Profiling / methods
  • Gene Expression Regulation
  • Humans
  • ROC Curve
  • Software*
  • Transcriptome
  • User-Computer Interface