DeepSplice: Deep classification of novel splice junctions revealed by RNA-seq

Yi Zhang, Xinan Liu, James N. Macleod, Jinze Liu

Research output: Chapter in Book/Report/Conference proceedingConference contributionpeer-review

14 Scopus citations

Abstract

Alternative splicing (AS) is a regulated process that enables the production of multiple mRNA transcripts from a single multi-exon gene. The availability of large-scale RNA-seq datasets has made it possible to predict splice junctions, as well as splice sites through spliced alignment to the reference genome. This greatly enhances the capability to decipher gene structures and explore the diversity of splicing variants. However, existing ab initio aligners are vulnerable to false positive spliced alignments as a result of sequence errors and random sequence matches. These spurious alignments can lead to a significant set of false positive splice junction predictions, confusing downstream analyses of splice variant detection and abundance estimation. In this work, we illustrate that splice junction sequence characteristics can be ascertained from experimental data with deep learning techniques. We employ deep convolutional neural networks for a novel splice junction classification tool named DeepSplice that (i) outperforms state-of-the-art methods for predicting splice sites, (ii) shows high computational efficiency and (iii) can be applied to self-defined training data by users.

Original languageEnglish
Title of host publicationProceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
EditorsKevin Burrage, Qian Zhu, Yunlong Liu, Tianhai Tian, Yadong Wang, Xiaohua Tony Hu, Qinghua Jiang, Jiangning Song, Shinichi Morishita, Kevin Burrage, Guohua Wang
Pages330-333
Number of pages4
ISBN (Electronic)9781509016105
DOIs
StatePublished - Jan 17 2017
Event2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016 - Shenzhen, China
Duration: Dec 15 2016Dec 18 2016

Publication series

NameProceedings - 2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016

Conference

Conference2016 IEEE International Conference on Bioinformatics and Biomedicine, BIBM 2016
Country/TerritoryChina
CityShenzhen
Period12/15/1612/18/16

Keywords

  • Alternative Splicing
  • Deep Learning
  • RNA-seq
  • Splice Junctions

ASJC Scopus subject areas

  • Genetics
  • Medicine (miscellaneous)
  • Genetics(clinical)
  • Biochemistry, medical
  • Biochemistry
  • Molecular Medicine
  • Health Informatics

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