Transposable elements (TEs) are genomic units able to move within the genome of virtually all organisms. Due to their natural repetitive numbers and their high structural diversity, the identification and classification of TEs remain a challenge in sequenced genomes. Although TEs were initially regarded as “junk DNA”, it has been demonstrated that they play key roles in chromosome structures, gene expression, and regulation, as well as adaptation and evolution. A highly reliable annotation of these elements is, therefore, crucial to better understand genome functions and their evolution. To date, much bioinformatics software has been developed to address TE detection and classification processes, but many problematic aspects remain, such as the reliability, precision, and speed of the analyses. Machine learning and deep learning are algorithms that can make automatic predictions and decisions in a wide variety of scientific applications. They have been tested in bioinformatics and, more specifically for TEs, classification with encouraging results. In this review, we will discuss important aspects of TEs, such as their structure, importance in the evolution and architecture of the host, and their current classifications and nomenclatures. We will also address current methods and their limitations in identifying and classifying TEs.

Advances in Deep Learning (DL) have provided alternative approaches to various complex problems, including the domain of spatial image steganalysis using Convolutional Neural Networks (CNN). Several CNN architectures have been developed in recent years, which have improved the detection accuracy of steganographic images. This work presents a novel CNN architecture which involves a preprocessing stage using filter banks to enhance steganographic noise, a feature extraction stage using depthwise and separable convolutional layers, and skip connections. Performance was evaluated using the BOSSbase 1.01 and BOWS 2 datasets with different experimental setups, including adaptive steganographic algorithms, namely WOW, S-UNIWARD, MiPOD, HILL and HUGO. Our results outperformed works published in the last few years in every experimental setting. This work improves classification accuracies on all algorithms and bits per pixel (bpp), reaching 80.3% on WOW with 0.2 bpp and 89.8% on WOW with 0.4 bpp, 73.6% and 87.1% on S-UNIWARD (0.2 and 0.4 bpp respectively), 68.3% and 81.4% on MiPOD (0.2 and 0.4 bpp), 68.5% and 81.9% on HILL (0.2 and 0.4 bpp), 74.6% and 84.5% on HUGO (0.2 and 0.4 bpp), using BOSSbase 1.01 test data.

Background Transposable elements (TEs) constitute the most common repeated sequences in eukaryotic genomes. Recent studies demonstrated their deep impact on species diversity, adaptation to the environment and diseases. Although there are many conventional bioinformatics algorithms for detecting and classifying TEs, none have achieved reliable results on different types of TEs. Machine learning (ML) techniques can automatically extract hidden patterns and novel information from labeled or non-labeled data and have been applied to solving several scientific problems. Methodology We followed the Systematic Literature Review (SLR) process, applying the six stages of the review protocol from it, but added a previous stage, which aims to detect the need for a review. Then search equations were formulated and executed in several literature databases. Relevant publications were scanned and used to extract evidence to answer research questions. Results Several ML approaches have already been tested on other bioinformatics problems with promising results, yet there are few algorithms and architectures available in literature focused specifically on TEs, despite representing the majority of the nuclear DNA of many organisms. Only 35 articles were found and categorized as relevant in TE or related fields. Conclusions ML is a powerful tool that can be used to address many problems. Although ML techniques have been used widely in other biological tasks, their utilization in TE analyses is still limited. Following the SLR, it was possible to notice that the use of ML for TE analyses (detection and classification) is an open problem, and this new field of research is growing in interest.

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Background Ruminants burp massive amounts of methane into the atmosphere and significantly contribute to the deposition of greenhouse gases and the consequent global warming. It is therefore urgent to devise strategies to mitigate ruminant’s methane emissions to alleviate climate change. Ruminal methanogenesis is accomplished by a series of methanogen archaea in the phylum Euryarchaeota, which piggyback into carbohydrate fermentation by utilizing residual hydrogen to produce methane. Abundance of methanogens, therefore, is expected to affect methane production. Furthermore, availability of hydrogen produced by cellulolytic bacteria acting upstream of methanogens is a rate-limiting factor for methane production. The aim of our study was to identify microbes associated with the production of methane which would constitute the basis for the design of mitigation strategies. Results Moderate differences in the abundance of methanogens were observed between groups. In addition, we present three lines of evidence suggesting an apparent higher abundance of a consortium of Prevotella species in animals with lower methane emissions. First, taxonomic classification revealed increased abundance of at least 29 species of Prevotella. Second, metagenome assembly identified increased abundance of Prevotella ruminicola and another species of Prevotella. Third, metabolic profiling of predicted proteins uncovered 25 enzymes with homology to Prevotella proteins more abundant in the low methane emissions group. Conclusions We propose that higher abundance of ruminal Prevotella increases the production of propionic acid and, in doing so, reduces the amount of hydrogen available for methanogenesis. However, further experimentation is required to ascertain the role of Prevotella on methane production and its potential to act as a methane production mitigator.

Because of the promising results obtained by machine learning (ML) approaches in several fields, every day is more common, the utilization of ML to solve problems in bioinformatics. In genomics, a current issue is to detect and classify transposable elements (TEs) because of the tedious tasks involved in bioinformatics methods. Thus, ML was recently evaluated for TE datasets, demonstrating better results than bioinformatics applications. A crucial step for ML approaches is the selection of metrics that measure the realistic performance of algorithms. Each metric has specific characteristics and measures properties that may be different from the predicted results. Although the most commonly used way to compare measures is by using empirical analysis, a non-result-based methodology has been proposed, called measure invariance properties. These properties are calculated on the basis of whether a given measure changes its value under certain modifications in the confusion matrix, giving comparative parameters independent of the datasets. Measure invariance properties make metrics more or less informative, particularly on unbalanced, monomodal, or multimodal negative class datasets and for real or simulated datasets. Although several studies applied ML to detect and classify TEs, there are no works evaluating performance metrics in TE tasks. Here, we analyzed 26 different metrics utilized in binary, multiclass, and hierarchical classifications, through bibliographic sources, and their invariance properties. Then, we corroborated our findings utilizing freely available TE datasets and commonly used ML algorithms. Based on our analysis, the most suitable metrics for TE tasks must be stable, even using highly unbalanced datasets, multimodal negative class, and training datasets with errors or outliers. Based on these parameters, we conclude that the F1-score and the area under the precision-recall curve are the most informative metrics since they are calculated based on other metrics, providing insight into the development of an ML application.

LTR-retrotransposons are the most abundant repeat sequences in plant genomes and play an important role in evolution and biodiversity. Their characterization is of great importance to understand their dynamics. However, the identification and classification of these elements remains a challenge today. Moreover, current software can be relatively slow (from hours to days), sometimes involve a lot of manual work and do not reach satisfactory levels in terms of precision and sensitivity. Here we present Inpactor2, an accurate and fast application that creates LTR-retrotransposon reference libraries in a very short time. Inpactor2 takes an assembled genome as input and follows a hybrid approach (deep learning and structure-based) to detect elements, filter partial sequences and finally classify intact sequences into superfamilies and, as very few tools do, into lineages. This tool takes advantage of multi-core and GPU architectures to decrease execution times. Using the rice genome, Inpactor2 showed a run time of 5 minutes (faster than other tools) and has the best accuracy and F1-Score of the tools tested here, also having the second best accuracy and specificity only surpassed by EDTA, but achieving 28% higher sensitivity. For large genomes, Inpactor2 is up to seven times faster than other available bioinformatics tools.

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