A machine learning based framework to identify and classify long terminal repeat retrotransposons

Transposable elements (TEs) are repetitive nucleotide sequences that make up a large portion of eukaryotic genomes. They can move and duplicate within a genome, increasing genome size and contributing to genetic diversity within and across species. Accurate identification and classification of TEs present in a genome is an important step towards understanding their effects on genes and their role in genome evolution. We introduce TE-Learner, a framework based on machine learning that automatically identifies TEs in a given genome and assigns a classification to them. We present an implementation of our framework towards LTR retrotransposons, a particular type of TEs characterized by having long terminal repeats (LTRs) at their boundaries. We evaluate the predictive performance of our framework on the well-annotated genomes of Drosophila melanogaster and Arabidopsis thaliana and we compare our results for three LTR retrotransposon superfamilies with the results of three widely used methods for TE identification or classification: RepeatMasker, Censor and LtrDigest. In contrast to these methods, TE-Learner is the first to incorporate machine learning techniques, outperforming these methods in terms of predictive performance, while able to learn models and make predictions efficiently. Moreover, we show that our method was able to identify TEs that none of the above method could find, and we investigated TE-Learner’s predictions which did not correspond to an official annotation. It turns out that many of these predictions are in fact strongly homologous to a known TE.
Author summary Over the years, with the increase of the acquisition of biological data, the extraction of knowledge from this data is getting more important. To understand how biology works is very important to increase the quality of the products and services which use biological data. This directly influences companies and governments, which need to remain in the knowledge frontier of an increasing competitive economy. Transposable Elements (TEs) are an example of very important biological data, and to understand their role in the genomes of organisms is very important for the development of products based on biological data. As an example, we can cite the production biofuels such as the sugar-cane-based ones. Many studies have revealed the presence of active TEs in this plant, which has gained economic importance in many countries. To understand how TEs influence the plant should help researchers to develop more resistant varieties of sugar-cane, increasing the production. Thus, the development of computational methods able to help biologists in the correct identification and classification of TEs is very important from both theoretical and practical perspectives.