Improved recovery and annotation of genes in metagenomes through the prediction of fungal introns.

Metagenomics provides a tool to assess the functional potential of environmental and host-associated microbiomes based on the analysis of environmental DNA: assembly, gene prediction and annotation. While gene prediction is straightforward for most bacterial and archaeal taxa, it has limited applicability in the majority of eukaryotic organisms, including fungi that contain introns in gene coding sequences. As a consequence, eukaryotic genes are underrepresented in metagenomics datasets and our understanding of the contribution of fungi and other eukaryotes to microbiome functioning is limited. Here, we developed a machine intelligence-based algorithm that predicts fungal introns in environmental DNA with reasonable precision and used it to improve the annotation of environmental metagenomes. Intron removal increased the number of predicted genes by up to 9.1% and improved the annotation of several others. The proportion of newly predicted genes increased with the share of eukaryotic genes in the metagenome and-within fungal taxa-increased with the number of introns per gene. Our approach provides a tool named SVMmycointron for improved metagenome annotation, especially of microbiomes with a high proportion of eukaryotes. The scripts described in the paper are made publicly available and can be readily utilized by microbiome researchers analysing metagenomics data.

The Effect of Primary Aldosteronism on Carotid Artery Texture in Ultrasound Images.

Primary aldosteronism (PA) is the most frequent cause of secondary hypertension. Early diagnoses of PA are essential to avoid the long-term negative effects of elevated aldosterone concentration on the cardiovascular and renal system. In this work, we study the texture of the carotid artery vessel wall from longitudinal ultrasound images in order to automatically distinguish between PA and essential hypertension (EH). The texture is characterized using 140 Haralick and 10 wavelet features evaluated in a region of interest in the vessel wall, followed by the XGBoost classifier. Carotid ultrasound studies were carried out on 33 patients aged 42-72 years with PA, 52 patients with EH, and 33 normotensive controls. For the most clinically relevant task of distinguishing PA and EH classes, we achieved a classification accuracy of 73% as assessed by a leave-one-out procedure. This result is promising even compared to the 57% prediction accuracy using clinical characteristics alone or 63% accuracy using a combination of clinical characteristics and intima-media thickness (IMT) parameters. If the accuracy is improved and the method incorporated into standard clinical procedures, this could eventually lead to an improvement in the early diagnosis of PA and consequently improve the clinical outcome for these patients in future.

Characterization of drug effects on cell cultures from phase-contrast microscopy images.

In this work, we classify chemotherapeutic agents (topoisomerase inhibitors) based on their effect on U-2 OS cells. We use phase-contrast microscopy images, which are faster and easier to obtain than fluorescence images and support live cell imaging. We use a convolutional neural network (CNN) trained end-to-end directly on the input images without requiring for manual segmentations or any other auxiliary data. Our method can distinguish between tested cytotoxic drugs with an accuracy of 98%, provided that their mechanism of action differs, outperforming previous work. The results are even better when substance-specific concentrations are used. We show the benefit of sharing the extracted features over all classes (drugs). Finally, a 2D visualization of these features reveals clusters, which correspond well to known class labels, suggesting the possible use of our methodology for drug discovery application in analyzing new, unseen drugs.