DNA-Level Splice Junction Prediction using Deep Recurrent Neural Networks

Abstract: A eukaryotic gene consists of multiple exons (protein coding regions) and introns (non-coding regions), and a splice junction refers to the boundary between a pair of exon and intron. Precise identification of spice junctions on a gene is important for deciphering its primary structure, function, and interaction. Experimental techniques for determining exon/intron boundaries include RNA-seq, which is often accompanied by computational approaches. Canonical splicing signals are known, but computational junction prediction still remains challenging because of a large number of false positives and other complications. In this paper, we exploit deep recurrent neural networks (RNNs) to model DNA sequences and to detect splice junctions thereon. We test various RNN units and architectures including long short-term memory units, gated recurrent units, and recently proposed iRNN for in-depth design space exploration. According to our experimental results, the proposed approach significantly outperforms not only conventional machine learning-based methods but also a recent state-of-the-art deep belief network-based technique in terms of prediction accuracy.