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.

Coffea arabica, an allotetraploid hybrid of Coffea eugenioides and Coffea canephora, is the source of approximately 60% of coffee products worldwide, and its cultivated accessions have undergone several population bottlenecks. We present chromosome-level assemblies of a di-haploid C. arabica accession and modern representatives of its diploid progenitors, C. eugenioides and C. canephora. The three species exhibit largely conserved genome structures between diploid parents and descendant subgenomes, with no obvious global subgenome dominance. We find evidence for a founding polyploidy event 350,000–610,000 years ago, followed by several pre-domestication bottlenecks, resulting in narrow genetic variation. A split between wild accessions and cultivar progenitors occurred ~30.5 thousand years ago, followed by a period of migration between the two populations. Analysis of modern varieties, including lines historically introgressed with C. canephora, highlights their breeding histories and loci that may contribute to pathogen resistance, laying the groundwork for future genomics-based breeding of C. arabica.

Cancer classification is a topic of major interest in medicine since it allows accurate and efficient diagnosis and facilitates a successful outcome in medical treatments. Previous studies have classified human tumors using a large-scale RNA profiling and supervised Machine Learning (ML) algorithms to construct a molecular-based classification of carcinoma cells from breast, bladder, adenocarcinoma, colorectal, gastro esophagus, kidney, liver, lung, ovarian, pancreas, and prostate tumors. These datasets are collectively known as the 11_tumor database, although this database has been used in several works in the ML field, no comparative studies of different algorithms can be found in the literature. On the other hand, advances in both hardware and software technologies have fostered considerable improvements in the precision of solutions that use ML, such as Deep Learning (DL). In this study, we compare the most widely used algorithms in classical ML and DL to classify the tumors described in the 11_tumor database. We obtained tumor identification accuracies between 90.6% (Logistic Regression) and 94.43% (Convolutional Neural Networks) usingk-fold cross-validation. Also, we show how a tuning process may or may not significantly improve algorithms’ accuracies. Our results demonstrate an efficient and accurate classification method based on gene expression (microarray data) and ML/DL algorithms, which facilitates tumor type prediction in a multi-cancer-type scenario.

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.

COVID-19 global pandemic affects health care and lifestyle worldwide, and its early detection is critical to control cases’ spreading and mortality. The actual leader diagnosis test is the Reverse transcription Polymerase chain reaction (RT-PCR), result times and cost of these tests are high, so other fast and accesible diagnostic tools are needed. Inspired by recent research that correlates the presence of COVID-19 to findings in Chest X-ray images, this papers’ approach uses existing deep learning models (VGG19 and U-Net) to process these images and classify them as positive or negative for COVID-19. The proposed system involves a preprocessing stage with lung segmentation, removing the surroundings which does not offer relevant information for the task and may produce biased results; after this initial stage comes the classification model trained under the transfer learning scheme; and finally, results analysis and interpretation via heat maps visualization. The best models achieved a detection accuracy of COVID-19 around 97%.

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.