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Messenger RNA splicing and degradation are critical for gene expression regulation, the abnormality of which leads to diseases. Previous methods for estimating kinetic rates have limitations, assuming uniform rates across cells. DeepKINET is a deep generative model that estimates splicing and degradation rates at single-cell resolution from scRNA-seq data. DeepKINET outperforms existing methods on simulated and metabolic labeling datasets. Applied to forebrain and breast cancer data, it identifies RNA-binding proteins responsible for kinetic rate diversity. DeepKINET also analyzes the effects of splicing factor mutations on target genes in erythroid lineage cells. DeepKINET effectively reveals cellular heterogeneity in post-transcriptional regulation.

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MOTIVATION: Single-cell RNA sequencing (scRNA-seq) enables comprehensive characterization of the cell state. However, its destructive nature prohibits measuring gene expression changes during dynamic processes such as embryogenesis. Although recent studies integrating scRNA-seq with lineage tracing have provided clonal insights between progenitor and mature cells, challenges remain. Because of their experimental nature, observations are sparse, and cells observed in the early state are not the exact progenitors of cells observed at later time points. To overcome these limitations, we developed LineageVAE, a novel computational methodology that utilizes deep learning based on the property that cells sharing barcodes have identical progenitors. RESULTS: LineageVAE is a deep generative model that transforms scRNA-seq observations with identical lineage barcodes into sequential trajectories toward a common progenitor in a latent cell state space. This method enables the reconstruction of unobservable cell state transitions, historical transcriptomes, and regulatory dynamics at a single-cell resolution. Applied to hematopoiesis and reprogrammed fibroblast datasets, LineageVAE demonstrated its ability to restore backward cell state transitions and infer progenitor heterogeneity and transcription factor activity along differentiation trajectories. AVAILABILITY AND IMPLEMENTATION: The LineageVAE model was implemented in Python using the PyTorch deep learning library. The code is available on GitHub at https://github.com/LzrRacer/LineageVAE/. SUPPLEMENTARY INFORMATION: Available at Bioinformatics online.

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In real-world scenarios, making navigation decisions for autonomous driving involves a sequential set of steps. These judgments are made based on partial observations of the environment, while the underlying model of the environment remains unknown. A prevalent method for resolving such issues is reinforcement learning, in which the agent acquires knowledge through a succession of rewards in addition to fragmentary and noisy observations. This study introduces an algorithm named deep reinforcement learning navigation via decision transformer (DRLNDT) to address the challenge of enhancing the decision-making capabilities of autonomous vehicles operating in partially observable urban environments. The DRLNDT framework is built around the Soft Actor-Critic (SAC) algorithm. DRLNDT utilizes Transformer neural networks to effectively model the temporal dependencies in observations and actions. This approach aids in mitigating judgment errors that may arise due to sensor noise or occlusion within a given state. The process of extracting latent vectors from high-quality images involves the utilization of a variational autoencoder (VAE). This technique effectively reduces the dimensionality of the state space, resulting in enhanced training efficiency. The multimodal state space consists of vector states, including velocity and position, which the vehicle's intrinsic sensors can readily obtain. Additionally, latent vectors derived from high-quality images are incorporated to facilitate the Agent's assessment of the present trajectory. Experiments demonstrate that DRLNDT may achieve a superior optimal policy without prior knowledge of the environment, detailed maps, or routing assistance, surpassing the baseline technique and other policy methods that lack historical data.

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MOTIVATION: The rapid development of spatial transcriptome technologies has enabled researchers to acquire single-cell-level spatial data at an affordable price. However, computational analysis tools, such as annotation tools, tailored for these data are still lacking. Recently, many computational frameworks have emerged to integrate single-cell RNA sequencing (scRNA-seq) and spatial transcriptomics datasets. While some frameworks can utilize well-annotated scRNA-seq data to annotate spatial expression patterns, they overlook critical aspects. First, existing tools do not explicitly consider cell type mapping when aligning the two modalities. Second, current frameworks lack the capability to detect novel cells, which remains a key interest for biologists. RESULTS: To address these problems, we propose an annotation method for spatial transcriptome data called SPANN. The main tasks of SPANN are to transfer cell-type labels from well-annotated scRNA-seq data to newly generated single-cell resolution spatial transcriptome data and discover novel cells from spatial data. The major innovations of SPANN come from two aspects: SPANN automatically detects novel cells from unseen cell types while maintaining high annotation accuracy over known cell types. SPANN finds a mapping between spatial transcriptome samples and RNA data prototypes and thus conducts cell-type-level alignment. Comprehensive experiments using datasets from various spatial platforms demonstrate SPANN's capabilities in annotating known cell types and discovering novel cell states within complex tissue contexts. AVAILABILITY: The source code of SPANN can be accessed at https://github.com/ddb-qiwang/SPANN-torch. CONTACT: dengmh@math.pku.edu.cn.

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Wearable electrocardiogram (ECG) equipment can realize continuous monitoring of cardiovascular diseases, but these devices are more susceptible to interference from various noises, which will seriously reduce the diagnostic correctness. In this work, a novel noise reduction model for ECG signals is proposed based on variational autoencoder and masked convolution. The variational Bayesian inference is conducted to capture the global features of the ECG signals by encouraging the approximate posterior of the latent variables to fit the prior distribution, and we use the skip connection and feature concatenation to realize the information interaction across the channels. To strengthen the connection of local features of the ECG signals, the masked convolution module is used to extract local feature information, which supplement the global features and the noise reduction performance of whole model can be greatly improved. Experiments are carried out on the MIT-BIH arrythmia database, and the results display that the performance metrics of signal-to-noise ratio (SNR) and root mean square error (RMSE) are significantly improved compared with other approaches while causing less signal distortion.

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In recent decades, the Variational AutoEncoder (VAE) model has shown good potential and capability in image generation and dimensionality reduction. The combination of VAE and various machine learning frameworks has also worked effectively in different daily life applications, however its possible use and effectiveness in modern game design has seldom been explored nor assessed. The use of its feature extractor for data clustering has also been minimally discussed in the literature neither. This study first attempts to explore different mathematical properties of the VAE model, in particular, the theoretical framework of the encoding and decoding processes, the possible achievable lower bound and loss functions of different applications; then applies the established VAE model to generate new game levels based on two well-known game settings; and to validate the effectiveness of its data clustering mechanism with the aid of the Modified National Institute of Standards and Technology (MNIST) database. Respective statistical metrics and assessments are also utilized to evaluate the performance of the proposed VAE model in aforementioned case studies. Based on the statistical and graphical results, several potential deficiencies, for example, difficulties in handling high-dimensional and vast datasets, as well as insufficient clarity of outputs are discussed; then measures of future enhancement, such as tokenization and the combination of VAE and GAN models, are also outlined. Hopefully, this can ultimately maximize the strengths and advantages of VAE for future game design tasks and relevant industrial missions.

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During the process of drug discovery, exploring drug-protein interactions (DPIs) is a key step. With the rapid development of biological data, computer-aided methods are much faster than biological experiments. Deep learning methods have become popular and are mainly used to extract the characteristics of drugs and proteins for further DPIs prediction. Since the prediction of DPIs through machine learning cannot fully extract effective features, in our work, we propose a deep learning framework that uses variational autoencoders and attention mechanisms; it utilizes convolutional neural networks (CNNs) to obtain local features and attention mechanisms to obtain important information about drugs and proteins, which is very important for predicting DPIs. Compared with some machine learning methods on the C.elegans and human datasets, our approach provides a better effect. On the BindingDB dataset, its accuracy (ACC) and area under the curve (AUC) reach 0.862 and 0.913, respectively. To verify the robustness of the model, multiclass classification tasks are performed on Davis and KIBA datasets, and the ACC values reach 0.850 and 0.841, respectively, thus further demonstrating the effectiveness of the model.

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Matrix-assisted laser desorption/ionization time-of-flight mass (MALDI-TOF) spectrometry fingerprinting has reduced turnaround times, costs, and labor as conventional procedures in various laboratories. However, some species strains with high genetic correlation have not been directly distinguished using conventional standard procedures. Metabolomes can identify these strains by amplifying the minor differences because they are directly related to the phenotype. The pseudotargeted metabolomics method has the advantages of both non-targeted and targeted metabolomics. It can provide a new semi-quantitative fingerprinting with high coverage. We combined this pseudotargeted metabolomic fingerprinting with deep learning technology for the identification and visualization of the pathogen. A variational autoencoder framework was performed to identify and classify pathogenic bacteria and achieve their visualization, with prediction accuracy exceeding 99%. Therefore, this technology will be a powerful tool for rapidly and accurately identifying pathogens.

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Brain neural activity decoding is an important branch of neuroscience research and a key technology for the brain-computer interface (BCI). Researchers initially developed simple linear models and machine learning algorithms to classify and recognize brain activities. With the great success of deep learning on image recognition and generation, deep neural networks (DNN) have been engaged in reconstructing visual stimuli from human brain activity via functional magnetic resonance imaging (fMRI). In this paper, we reviewed the brain activity decoding models based on machine learning and deep learning algorithms. Specifically, we focused on current brain activity decoding models with high attention: variational auto-encoder (VAE), generative confrontation network (GAN), and the graph convolutional network (GCN). Furthermore, brain neural-activity-decoding-enabled fMRI-based BCI applications in mental and psychological disease treatment are presented to illustrate the positive correlation between brain decoding and BCI. Finally, existing challenges and future research directions are addressed.

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Missing data imputation and automatic fault detection of wastewater treatment plant (WWTP) sensors are crucial for energy conservation and environmental protection. Given the dynamic and non-linear characteristics of WWTP measurements, the conventional diagnosis models are inefficient and ignore potential valuable features in the offline modeling phase, leading to false alarms and inaccurate imputations. In this study, an inclusive framework for missing data imputation and sensor self-validation based on integrating variational autoencoders (VAE) with a deep residual network structure (ResNet-VAE) is proposed. This network structure can automatically extract complex features from WWTP data without the risk of vanishing gradients by learning the potential probability distribution of the input data. The proposed framework is intended to increase the reliability of faulty sensors by imputing missing data, detecting anomalies, identifying failure sources, and reconstructing faulty data to normal conditions. Several metrics were utilized to assess the performance of the suggested approach in comparison with other different methods. The VAE-ResNet approach showed superiority to detect (DRSPE = 100%), reconstruct faulty WWTP sensors (MAPE = 15.41%-5.68%) and impute the missing values (MAPE = 10.44%-3.98%). Lastly, the consequences of faulty data, missing data, reconstructed and imputed data were evaluated considering electricity consumption and resilience to demonstrate the ResNet-VAE model's superior performance for WWTP sustainability.

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Multiscale enhanced sampling (MSES) allows for an enhanced sampling of all-atom protein structures by coupling with the accelerated dynamics of the associated coarse-grained (CG) model. In this paper, we propose an MSES extension to replace the CG model with the dynamics on the reduced subspace generated by a machine learning approach, the variational autoencoder (VAE). The molecular dynamic (MD) trajectories of the ribose-binding protein (RBP) in both the closed and open forms were used as the input by extracting the inter-residue distances as the structural features in order to train the VAE model, allowing the encoded latent layer to characterize the difference in the structural dynamics of the closed and open forms. The interpolated data characterizing the RBP structural change in between the closed and open forms were thus efficiently generated in the low-dimensional latent space of the VAE, which was then decoded into the time-series data of the inter-residue distances and was useful for driving the structural sampling at an atomistic resolution via the MSES scheme. The free energy surfaces on the latent space demonstrated the refinement of the generated data that had a single basin into the simulated data containing two closed and open basins, thus illustrating the usefulness of the MD simulation together with the molecular mechanics force field in recovering the correct structural ensemble.

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In spite of the unprecedented resolution provided by non-contact atomic force microscopy (AFM) with CO-functionalized and advances in the interpretation of the observed contrast, the unambiguous identification of molecular systems solely based on AFM images, without any prior information, remains an open problem. This work presents a first step towards the automatic classification of AFM experimental images by a deep learning model trained essentially with a theoretically generated dataset. We analyze the limitations of two standard models for pattern recognition when applied to AFM image classification and develop a model with the optimal depth to provide accurate results and to retain the ability to generalize. We show that a variational autoencoder (VAE) provides a very efficient way to incorporate, from very few experimental images, characteristic features into the training set that assure a high accuracy in the classification of both theoretical and experimental images.

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End-to-end TTS advancement has shown that synthesized speech prosody can be controlled by conditioning the decoder with speech prosody attribute labels. However, to annotate quantitatively the prosody patterns of a large set of training data is both time consuming and expensive. To use unannotated data, variational autoencoder (VAE) has been proposed to model individual prosody attribute as a random variable in the latent space. The VAE is an unsupervised approach and the corresponding latent variables are in general correlated with each other. For more effective and direct control of speech prosody along each attribute dimension, it is highly desirable to disentangle the correlated latent variables. Additionally, being able to interpret the disentangled attributes as speech perceptual cues is useful for designing more efficient prosody control of TTS. In this paper, we propose two attribute separation schemes: (1) using 3 separate VAEs to model the real-valued, different prosodic features, i.e., F0, energy and duration; (2) minimizing mutual information between different prosody attributes to remove their mutual correlations, for facilitating more direct prosody control. Experimental results confirm that the two proposed schemes can indeed make individual prosody attributes more interpretable and direct TTS prosody control more effective. The improvements are measured objectively by F0 Frame Error (FFE) and subjectively with MOS and A/B comparison listening tests, respectively. The scatter diagrams of t-SNE also demonstrate the correlations between prosody attributes, which are well disentangled by minimizing their mutual information. Synthesized TTS samples can be found at https://xiaochunan.github.io/prosody/index.html.

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Precise localization and pose estimation in indoor environments are commonly employed in a wide range of applications, including robotics, augmented reality, and navigation and positioning services. Such applications can be solved via visual-based localization using a pre-built 3D model. The increase in searching space associated with large scenes can be overcome by retrieving images in advance and subsequently estimating the pose. The majority of current deep learning-based image retrieval methods require labeled data, which increase data annotation costs and complicate the acquisition of data. In this paper, we propose an unsupervised hierarchical indoor localization framework that integrates an unsupervised network variational autoencoder (VAE) with a visual-based Structure-from-Motion (SfM) approach in order to extract global and local features. During the localization process, global features are applied for the image retrieval at the level of the scene map in order to obtain candidate images, and are subsequently used to estimate the pose from 2D-3D matches between query and candidate images. RGB images only are used as the input of the proposed localization system, which is both convenient and challenging. Experimental results reveal that the proposed method can localize images within 0.16 m and 4° in the 7-Scenes data sets and 32.8% within 5 m and 20° in the Baidu data set. Furthermore, our proposed method achieves a higher precision compared to advanced methods.

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This work aims to identify a new radiomics signature using imaging phenotypes and clinical variables for risk prediction of overall survival (OS) in hepatocellular carcinoma (HCC) patients treated with stereotactic body radiation therapy (SBRT). 167 patients were retrospectively analyzed with repeated nested cross-validation to mitigate overfitting issues. 56 radiomic features were extracted from pre-treatment contrast-enhanced (CE) CT images. 37 clinical factors were obtained from patients' electronic records. Variational autoencoders (VAE) based survival models were designed for radiomics and clinical features and a convolutional neural network (CNN) survival model was used for the CECT. Finally, radiomics, clinical and raw image deep learning network (DNN) models were combined to predict the risk probability for OS. The final models yielded c-indices of 0.579 (95%CI: 0.544-0.621), 0.629 (95%CI: 0.601-0.643), 0.581 (95%CI: 0.553-0.613) and 0.650 (95%CI: 0.635-0.683) for radiomics, clinical, image input and combined models on nested cross validation scheme, respectively. Integrated gradients method was used to interpret the trained models. Our interpretability analysis of the DNN showed that the top ranked features were clinical liver function and liver exclusive of tumor radiomics features, which suggests a prominent role of side effects and toxicities in liver outside the tumor region in determining the survival rate of these patients. In summary, novel deep radiomic analysis provides improved performance for risk assessment of HCC prognosis compared with Cox survival models and may facilitate stratification of HCC patients and personalization of their treatment strategies. Liver function was found to contribute most to the OS for these HCC patients and radiomics can aid in their management.

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Today, accurate and automated abnormality diagnosis and identification have become of paramount importance as they are involved in many critical and life-saving scenarios. To accomplish such frontiers, we propose three artificial intelligence models through the application of deep learning algorithms to analyze and detect anomalies in human heartbeat signals. The three proposed models include an attention autoencoder that maps input data to a lower-dimensional latent representation with maximum feature retention, and a reconstruction decoder with minimum remodeling loss. The autoencoder has an embedded attention module at the bottleneck to learn the salient activations of the encoded distribution. Additionally, a variational autoencoder (VAE) and a long short-term memory (LSTM) network is designed to learn the Gaussian distribution of the generative reconstruction and time-series sequential data analysis. The three proposed models displayed outstanding ability to detect anomalies on the evaluated five thousand electrocardiogram (ECG5000) signals with 99% accuracy and 99.3% precision score in detecting healthy heartbeats from patients with severe congestive heart failure.

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This paper presents an unsupervised methodology to analyze SeismoCardioGram (SCG) signals. Starting from raw accelerometric data, heartbeat complexes are extracted and annotated, using a two-step procedure. An unsupervised calibration procedure is added to better adapt to different user patterns. Results show that the performance scores achieved by the proposed methodology improve over related literature: on average, 98.5% sensitivity and 98.6% precision are achieved in beat detection, whereas RMS (Root Mean Square) error in heartbeat interval estimation is as low as 4.6 ms. This allows SCG heartbeat complexes to be reliably extracted. Then, the morphological information of such waveforms is further processed by means of a modular Convolutional Variational AutoEncoder network, aiming at extracting compressed, meaningful representation. After unsupervised training, the VAE network is able to recognize different signal morphologies, associating each user to its specific patterns with high accuracy, as indicated by specific performance metrics (including adjusted random and mutual information score, completeness, and homogeneity). Finally, a Linear Model is used to interpret the results of clustering in the learned latent space, highlighting the impact of different VAE architectural parameters (i.e., number of stacked convolutional units and dimension of latent space).

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