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The architecture of the brain is too complex to be intuitively surveyable without the use of compressed representations that project its variation into a compact, navigable space. The task is especially challenging with high-dimensional data, such as gene expression, where the joint complexity of anatomical and transcriptional patterns demands maximum compression. The established practice is to use standard principal component analysis (PCA), whose computational felicity is offset by limited expressivity, especially at great compression ratios. Employing whole-brain, voxel-wise Allen Brain Atlas transcription data, here we systematically compare compressed representations based on the most widely supported linear and non-linear methods-PCA, kernel PCA, non-negative matrix factorisation (NMF), t-stochastic neighbour embedding (t-SNE), uniform manifold approximation and projection (UMAP), and deep auto-encoding-quantifying reconstruction fidelity, anatomical coherence, and predictive utility across signalling, microstructural, and metabolic targets, drawn from large-scale open-source MRI and PET data. We show that deep auto-encoders yield superior representations across all metrics of performance and target domains, supporting their use as the reference standard for representing transcription patterns in the human brain.
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Encéfalo , Imageamento por Ressonância Magnética , Transcrição Gênica , Humanos , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Transcrição Gênica/fisiologia , Tomografia por Emissão de Pósitrons , Processamento de Imagem Assistida por Computador/métodos , Análise de Componente Principal , Compressão de Dados/métodos , Atlas como AssuntoRESUMO
The reconstruction of genomes is a critical step in genome-resolved metagenomics and for multi-omic data integration from microbial communities. Here, we present binny, a binning tool that produces high-quality metagenome-assembled genomes (MAG) from both contiguous and highly fragmented genomes. Based on established metrics, binny outperforms or is highly competitive with commonly used and state-of-the-art binning methods and finds unique genomes that could not be detected by other methods. binny uses k-mer-composition and coverage by metagenomic reads for iterative, nonlinear dimension reduction of genomic signatures as well as subsequent automated contig clustering with cluster assessment using lineage-specific marker gene sets. When compared with seven widely used binning algorithms, binny provides substantial amounts of uniquely identified MAGs and almost always recovers the most near-complete ($\gt 95\%$ pure, $\gt 90\%$ complete) and high-quality ($\gt 90\%$ pure, $\gt 70\%$ complete) genomes from simulated datasets from the Critical Assessment of Metagenome Interpretation initiative, as well as substantially more high-quality draft genomes, as defined by the Minimum Information about a Metagenome-Assembled Genome standard, from a real-world benchmark comprised of metagenomes from various environments than any other tested method.
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Metagenoma , Microbiota , Metagenômica/métodos , Algoritmos , Análise por Conglomerados , Microbiota/genéticaRESUMO
In this study, we explored the potential of novel inhibitors for FYN kinase, a critical target in cancer and neurodegenerative disorders, by integrating advanced cheminformatics, machine learning, and molecular simulation techniques. Our approach involved analyzing key interactions for FYN inhibition using established multi-kinase inhibitors such as Staurosporine, Dasatinib, and Saracatinib. We utilized ECFP4 circular fingerprints and the t-SNE machine learning algorithm to compare molecular similarities between FDA-approved drugs and known clinical trial inhibitors. This led to the identification of potential inhibitors, including Afatinib, Copanlisib, and Vandetanib. Using the DrugSpaceX platform, we generated a vast library of 72,196 analogues from these leads, which after careful refinement, resulted in 6008 promising candidates. Subsequent clustering identified 48 analogues with significant similarity to known inhibitors. Notably, two candidates derived from Vandetanib, DE27123047 and DE27123035, exhibited strong docking affinities and stable binding in molecular dynamics simulations. These candidates showed high potential as effective FYN kinase inhibitors, as evidenced by MMGBSA calculations and MCE-18 scores exceeding 50. Additionally, our exploration into their molecular architecture revealed potential modification sites on the quinazolin-4-amine scaffold, suggesting opportunities for strategic alterations to enhance activity and optimize ADME properties. Our research is a pioneering effort in drug discovery, unveiling novel candidates for FYN inhibition and demonstrating the efficacy of a multi-layered computational strategy. The molecular insights gained provide a pathway for strategic refinements and future experimental validations, setting a new direction in targeted drug development against diseases involving FYN kinase.
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INTRODUCTION: Ginger (Zingiber officinale Rosc.) varies widely due to varying concentrations of phytochemicals and geographical origin. Rapid non-invasive quality and traceability assessment techniques ensure a sustainable value chain. OBJECTIVE: The objective of this study is the development of suitable machine learning models to estimate the concentration of 6-gingerol and check traceability based on the spectral fingerprints of dried ginger samples collected from Northeast India and the Indian market using near-infrared spectrometry. METHODS: Samples from the market and Northeast India underwent High Performance Liquid Chromatographic analysis for 6-gingerol content estimation. Near infrared (NIR) Spectrometer acquired spectral data. Quality prediction utilized partial least square regression (PLSR), while fingerprint-based traceability identification employed principal component analysis and t-distributed stochastic neighbor embedding (t-SNE). Model performance was assessed using RMSE and R2 values across selective wavelengths and spectral fingerprints. RESULTS: The standard normal variate pretreated spectral data over the wavelength region of 1,100-1,250 nm and 1,325-1,550 nm showed the optimal calibration model with root mean square error of calibration and R2 C (coefficient of determination for calibration) values of 0.87 and 0.897 respectively. A lower value (0.24) of root mean square error of prediction and a higher value (0.973) of R2 P (coefficient of determination for prediction) indicated the effectiveness of the developed model. t-SNE performed better clustering of samples based on geographical location, which was independent of gingerol content. CONCLUSION: The developed NIR spectroscopic model for Indian ginger samples predicts the 6-gingerol content and provides geographical traceability-based identification to ensure a sustainable value chain, which can promote efficiency, cost-effectiveness, consumer confidence, sustainable sourcing, traceability, and data-driven decision-making.
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Continuous release of image databases with fully or partially identical inner categories dramatically deteriorates the production of autonomous Computer-Aided Diagnostics (CAD) systems for true comprehensive medical diagnostics. The first challenge is the frequent massive bulk release of medical image databases, which often suffer from two common drawbacks: image duplication and corruption. The many subsequent releases of the same data with the same classes or categories come with no clear evidence of success in the concatenation of those identical classes among image databases. This issue stands as a stumbling block in the path of hypothesis-based experiments for the production of a single learning model that can successfully classify all of them correctly. Removing redundant data, enhancing performance, and optimizing energy resources are among the most challenging aspects. In this article, we propose a global data aggregation scale model that incorporates six image databases selected from specific global resources. The proposed valid learner is based on training all the unique patterns within any given data release, thereby creating a unique dataset hypothetically. The Hash MD5 algorithm (MD5) generates a unique hash value for each image, making it suitable for duplication removal. The T-Distributed Stochastic Neighbor Embedding (t-SNE), with a tunable perplexity parameter, can represent data dimensions. Both the Hash MD5 and t-SNE algorithms are applied recursively, producing a balanced and uniform database containing equal samples per category: normal, pneumonia, and Coronavirus Disease of 2019 (COVID-19). We evaluated the performance of all proposed data and the new automated version using the Inception V3 pre-trained model with various evaluation metrics. The performance outcome of the proposed scale model showed more respectable results than traditional data aggregation, achieving a high accuracy of 98.48%, along with high precision, recall, and F1-score. The results have been proved through a statistical t-test, yielding t-values and p-values. It's important to emphasize that all t-values are undeniably significant, and the p-values provide irrefutable evidence against the null hypothesis. Furthermore, it's noteworthy that the Final dataset outperformed all other datasets across all metric values when diagnosing various lung infections with the same factors.
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COVID-19 , Pneumonia , Humanos , COVID-19/diagnóstico por imagem , Raios X , Pneumonia/diagnóstico por imagem , Algoritmos , Pulmão/diagnóstico por imagemRESUMO
BACKGROUND: Familial exudative vitreoretinopathy (FEVR) is a rare congenital disorder of retinal vascular development. We aimed to study the vascular characteristics around the optic disc in neonates with FEVR and the relationship with disease severity. METHODS: A retrospective, case-control study including 43 (58 eyes) newborn patients with FEVR at stages 1 to 3 and 30 (53 eyes) age-matched normal full-term newborns was conducted. The peripapillary vessel tortuosity (VT), vessel width (VW) and vessel density (VD) were quantified by computer technology. The t-distributed stochastic neighbor embedding (t-SNE) algorithm was used to visualize the relationship between the severity of FEVR and the characteristics of perioptic disc vascular parameters. RESULTS: The peripapillary VT, VW and VD were significantly increased in the FEVR group compared with the control group (P < 0.05). Subgroup analysis showed that VW and VD increased significantly with progressing FEVR stage (P < 0.05). And only VT in stage 3 FEVR was significantly increased compared with stage 1 and stage 2 (P < 0.05). After controlling the confounders, ordinal logistic regression analysis indicated that the VW (aOR: 1.75, P = 0.0002) and VD (aOR: 2.41, P = 0.0170) were significantly independent correlated with the FEVR stage, but VT (aOR: 1.07, P = 0.5454) was not correlated with FEVR staging. Visual analysis based on the t-SNE algorithm showed that peri-optic disc vascular parameters had a continuity along the direction of FEVR severity. CONCLUSIONS: In the neonatal population, there were significant differences in peripapillary vascular parameters between patients with FEVR and normal subjects. Quantitative measurement of vascular parameters around the optic disc can be used as one of the indicators to assess the severity of FEVR.
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Disco Óptico , Doenças Retinianas , Humanos , Recém-Nascido , Vitreorretinopatias Exsudativas Familiares , Disco Óptico/irrigação sanguínea , Estudos Retrospectivos , Estudos de Casos e Controles , Gravidade do PacienteRESUMO
A large number of atom probe tomography (APT) datasets from past experiments were collected into a database to conduct statistical analyses. An effective way of handling the data is shown, and a study on hydrogen is conducted to illustrate the usefulness of this approach. We propose to handle a large collection of APT spectra as a point cloud and use a city block distance-based metric to measure dissimilarity between spectra. This enables quick and automated searching for spectra by similarity. Since spectra from APT experiments on similar materials are similar, the point cloud of spectra contains clusters. Analysis of these clusters of spectra in this point cloud allows us to infer the sample materials. The behavior of contaminant hydrogen is analyzed and correlated with voltage, electric field, and sample base material. Across several materials, the H2+ /H+ ratio is found to decrease with increasing field, likely an indication of postionization of H2+ ions. The absolute amounts of H2+ and H+ are found to frequently increase throughout APT experiments.
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The work represents a successful attempt to combine a gas sensors array with instrumentation (hardware), and machine learning methods as the basis for creating numerical codes (software), together constituting an electronic nose, to correct the classification of the various stages of the wastewater treatment process. To evaluate the multidimensional measurement derived from the gas sensors array, dimensionality reduction was performed using the t-SNE method, which (unlike the commonly used PCA method) preserves the local structure of the data by minimizing the Kullback-Leibler divergence between the two distributions with respect to the location of points on the map. The k-median method was used to evaluate the discretization potential of the collected multidimensional data. It showed that observations from different stages of the wastewater treatment process have varying chemical fingerprints. In the final stage of data analysis, a supervised machine learning method, in the form of a random forest, was used to classify observations based on the measurements from the sensors array. The quality of the resulting model was assessed based on several measures commonly used in classification tasks. All the measures used confirmed that the classification model perfectly assigned classes to the observations from the test set, which also confirmed the absence of model overfitting.
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Nariz Eletrônico , Aprendizado de Máquina , Aprendizado de Máquina Supervisionado , Algoritmo Florestas Aleatórias , SoftwareRESUMO
Falls by the elderly pose considerable health hazards, leading not only to physical harm but a number of other related problems. A timely alert about a deteriorating gait, as an indication of an impending fall, can assist in fall prevention. In this investigation, a comprehensive comparative analysis was conducted between a commercially available mobile phone system and two wristband systems: one commercially available and another representing a novel approach. Each system was equipped with a singular three-axis accelerometer. The walk suggestive of a potential fall was induced by special glasses worn by the participants. The same standard machine-learning techniques were employed for the classification with all three systems based on a single three-axis accelerometer, yielding a best average accuracy of 86%, a specificity of 88%, and a sensitivity of 86% via the support vector machine (SVM) method using a wristband. A smartphone, on the other hand, achieved a best average accuracy of 73% also with an SVM using only a three-axis accelerometer sensor. The significance analysis of the mean accuracy, sensitivity, and specificity between the innovative wristband and the smartphone yielded a p-value of 0.000. Furthermore, the study applied unsupervised and semi-supervised learning methods, incorporating principal component analysis and t-distributed stochastic neighbor embedding. To sum up, both wristbands demonstrated the usability of wearable sensors in the early detection and mitigation of falls in the elderly, outperforming the smartphone.
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Acelerometria , Punho , Humanos , Idoso , Acelerometria/métodos , Algoritmos , Smartphone , Marcha , Acidentes por Quedas/prevenção & controleRESUMO
Human Activity Recognition (HAR) is a complex problem in deep learning, and One-Dimensional Convolutional Neural Networks (1D CNNs) have emerged as a popular approach for addressing it. These networks efficiently learn features from data that can be utilized to classify human activities with high performance. However, understanding and explaining the features learned by these networks remains a challenge. This paper presents a novel eXplainable Artificial Intelligence (XAI) method for generating visual explanations of features learned by one-dimensional CNNs in its training process, utilizing t-Distributed Stochastic Neighbor Embedding (t-SNE). By applying this method, we provide insights into the decision-making process through visualizing the information obtained from the model's deepest layer before classification. Our results demonstrate that the learned features from one dataset can be applied to differentiate human activities in other datasets. Our trained networks achieved high performance on two public databases, with 0.98 accuracy on the SHO dataset and 0.93 accuracy on the HAPT dataset. The visualization method proposed in this work offers a powerful means to detect bias issues or explain incorrect predictions. This work introduces a new type of XAI application, enhancing the reliability and practicality of CNN models in real-world scenarios.
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Inteligência Artificial , Redes Neurais de Computação , Humanos , Reprodutibilidade dos Testes , Atividades Humanas , Bases de Dados FactuaisRESUMO
BACKGROUND: The purity of sorghum varieties is an important indicator of the quality of raw materials used in the distillation of liquors. Different varieties of sorghum may be mixed during the acquisition process, which will affect the flavor and quality of liquor. To facilitate the rapid identification of sorghum varieties, this study proposes a sorghum variety identification model using hyperspectral imaging (HSI) technology combined with convolutional neural network (AlexNet). RESULTS: First, the watershed algorithm, which was modified with the extended-maxim transform, was used to segment the hyperspectral images of a single sorghum grain. The isolated forest algorithm was used to eliminate abnormal spectral data from the complete spectral data. Secondly, the AlexNet model of sorghum variety identification was established based on the two-dimensional gray image data of sorghum grain in group 1. The effects of different preprocessing methods and different convolution kernel sizes on the performance of the AlexNet model were discussed. The eigenvalues of the last layer of the AlexNet model were visualized using the t-distributed random neighborhood embedding method, which is used to evaluate the separability of features extracted by the AlexNet model. The performance differences between the optimal AlexNet model and traditional machine learning models for sorghum variety identification were compared. Finally, the varieties of sorghum grains in groups 2 and 3 were identified based on the optimal AlexNet model, and the average accuracy values of the test set reached 95.62% and 95.91% respectively. CONCLUSION: The results in this study demonstrated that HSI combined with the AlexNet model could provide a feasible technical approach for the detection of sorghum varieties. © 2022 Society of Chemical Industry.
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Sorghum , Imageamento Hiperespectral , Redes Neurais de Computação , Algoritmos , Grão ComestívelRESUMO
In machine learning and data analysis, dimensionality reduction and high-dimensional data visualization can be accomplished by manifold learning using a t-Distributed Stochastic Neighbor Embedding (t-SNE) algorithm. We significantly improve this manifold learning scheme by introducing a preprocessing strategy for the t-SNE algorithm. In our preprocessing, we exploit Laplacian eigenmaps to reduce the high-dimensional data first, which can aggregate each data cluster and reduce the Kullback-Leibler divergence (KLD) remarkably. Moreover, the k-nearest-neighbor (KNN) algorithm is also involved in our preprocessing to enhance the visualization performance and reduce the computation and space complexity. We compare the performance of our strategy with that of the standard t-SNE on the MNIST dataset. The experiment results show that our strategy exhibits a stronger ability to separate different clusters as well as keep data of the same kind much closer to each other. Moreover, the KLD can be reduced by about 30% at the cost of increasing the complexity in terms of runtime by only 1-2%.
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This study proposed a vessel segmentation method based on Gabor features. According to the eigenvector of Hessian matrix of each pixel in the image, the vessel direction of each point was obtained to set the direction angle of Gabor filter, and the Gabor features of different vessel width at each point were extracted to establish the 6D vectors of each point. By reducing the dimension of the 6D vector, the 2D vector of each point was obtained and fused with the original image G channel. U-Net neural network was used to classify the fused image to segment vessels. The experimental results of this method in DRIVE dataset showed that this method had a good effect on the detection of small vessels and vessels at the intersection.
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Algoritmos , Processamento de Imagem Assistida por Computador , Redes Neurais de Computação , Vasos RetinianosRESUMO
As the size and complexity of high-dimensional (HD) cytometry data continue to expand, comprehensive, scalable, and methodical computational analysis approaches are essential. Yet, contemporary clustering and dimensionality reduction tools alone are insufficient to analyze or reproduce analyses across large numbers of samples, batches, or experiments. Moreover, approaches that allow for the integration of data across batches or experiments are not well incorporated into computational toolkits to allow for streamlined workflows. Here we present Spectre, an R package that enables comprehensive end-to-end integration and analysis of HD cytometry data from different batches or experiments. Spectre streamlines the analytical stages of raw data pre-processing, batch alignment, data integration, clustering, dimensionality reduction, visualization, and population labelling, as well as quantitative and statistical analysis. Critically, the fundamental data structures used within Spectre, along with the implementation of machine learning classifiers, allow for the scalable analysis of very large HD datasets, generated by flow cytometry, mass cytometry, or spectral cytometry. Using open and flexible data structures, Spectre can also be used to analyze data generated by single-cell RNA sequencing or HD imaging technologies, such as Imaging Mass Cytometry. The simple, clear, and modular design of analysis workflows allow these tools to be used by bioinformaticians and laboratory scientists alike. Spectre is available as an R package or Docker container. R code is available on Github (https://github.com/immunedynamics/spectre).
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Algoritmos , Análise de Célula Única , Análise por Conglomerados , Citometria de Fluxo/métodos , SoftwareRESUMO
Pseudomonas putida KT2440 has long been studied for its diverse and robust metabolisms, yet many genes and proteins imparting these growth capacities remain uncharacterized. Using pooled mutant fitness assays, we identified genes and proteins involved in the assimilation of 52 different nitrogen containing compounds. To assay amino acid biosynthesis, 19 amino acid drop-out conditions were also tested. From these 71 conditions, significant fitness phenotypes were elicited in 672 different genes including 100 transcriptional regulators and 112 transport-related proteins. We divide these conditions into 6 classes, and propose assimilatory pathways for the compounds based on this wealth of genetic data. To complement these data, we characterize the substrate range of three promiscuous aminotransferases relevant to metabolic engineering efforts in vitro. Furthermore, we examine the specificity of five transcriptional regulators, explaining some fitness data results and exploring their potential to be developed into useful synthetic biology tools. In addition, we use manifold learning to create an interactive visualization tool for interpreting our BarSeq data, which will improve the accessibility and utility of this work to other researchers. IMPORTANCE Understanding the genetic basis of P. putida's diverse metabolism is imperative for us to reach its full potential as a host for metabolic engineering. Many target molecules of the bioeconomy and their precursors contain nitrogen. This study provides functional evidence linking hundreds of genes to their roles in the metabolism of nitrogenous compounds, and provides an interactive tool for visualizing these data. We further characterize several aminotransferases, lactamases, and regulators, which are of particular interest for metabolic engineering.
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Pseudomonas putida , Aminoácidos/metabolismo , Nitrogênio/metabolismo , Fenótipo , Pseudomonas putida/metabolismo , Transaminases/genética , Transaminases/metabolismoRESUMO
OBJECTIVE: To visualize the encoding capability of magnetic resonance fingerprinting (MRF) dictionaries. MATERIALS AND METHODS: High-dimensional MRF dictionaries were simulated and embedded into a lower-dimensional space using t-distributed stochastic neighbor embedding (t-SNE). The embeddings were visualized via colors as a surrogate for location in low-dimensional space. First, we illustrate this technique on three different MRF sequences. We then compare the resulting embeddings and the color-coded dictionary maps to these obtained with a singular value decomposition (SVD) dimensionality reduction technique. We validate the t-SNE approach with measures based on existing quantitative measures of encoding capability using the Euclidean distance. Finally, we use t-SNE to visualize MRF sequences resulting from an MRF sequence optimization algorithm. RESULTS: t-SNE was able to show clear differences between the color-coded dictionary maps of three MRF sequences. SVD showed smaller differences between different sequences. These findings were confirmed by quantitative measures of encoding. t-SNE was also able to visualize differences in encoding capability between subsequent iterations of an MRF sequence optimization algorithm. DISCUSSION: This visualization approach enables comparison of the encoding capability of different MRF sequences. This technique can be used as a confirmation tool in MRF sequence optimization.
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Processamento de Imagem Assistida por Computador , Imageamento por Ressonância Magnética , Algoritmos , Processamento de Imagem Assistida por Computador/métodos , Imageamento por Ressonância Magnética/métodos , Espectroscopia de Ressonância Magnética , Imagens de FantasmasRESUMO
Irradiation of the tumour site during treatment for cancer with external-beam ionising radiation results in a complex and dynamic series of effects in both the tumour itself and the normal tissue which surrounds it. The development of a spectral model of the effect of each exposure and interaction mode between these tissues would enable label free assessment of the effect of radiotherapeutic treatment in practice. In this study Fourier transform Infrared microspectroscopic imaging was employed to analyse an in-vitro model of radiotherapeutic treatment for prostate cancer, in which a normal cell line (PNT1A) was exposed to low-dose X-ray radiation from the scattered treatment beam, and also to irradiated cell culture medium (ICCM) from a cancer cell line exposed to a treatment relevant dose (2 Gy). Various exposure modes were studied and reference was made to previously acquired data on cellular survival and DNA double strand break damage. Spectral analysis with manifold methods, linear spectral fitting, non-linear classification and non-linear regression approaches were found to accurately segregate spectra on irradiation type and provide a comprehensive set of spectral markers which differentiate on irradiation mode and cell fate. The study demonstrates that high dose irradiation, low-dose scatter irradiation and radiation-induced bystander exposure (RIBE) signalling each produce differential effects on the cell which are observable through spectroscopic analysis.
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Efeito Espectador , Lesões por Radiação , Masculino , Humanos , Efeito Espectador/efeitos da radiação , Quebras de DNA de Cadeia Dupla , Sobrevivência Celular/efeitos da radiação , Linhagem CelularRESUMO
BACKGROUND: Due to continued advances in sequencing technology, the limitation in understanding biological systems through an "-omics" lens is no longer the generation of data, but the ability to analyze it. Importantly, much of this rich -omics data is publicly available waiting to be further investigated. Although many code-based pipelines exist, there is a lack of user-friendly and accessible applications that enable rapid analysis or visualization of data. RESULTS: GECO (Gene Expression Clustering Optimization; http://www.theGECOapp.com ) is a minimalistic GUI app that utilizes non-linear reduction techniques to rapidly visualize expression trends in many types of biological data matrices (such as bulk RNA-seq or proteomics). The required input is a data matrix with samples and any type of expression level of genes/protein/other with a unique ID. The output is an interactive t-SNE or UMAP analysis that clusters genes (or proteins/other unique IDs) based on their expression patterns across the multiple samples enabling visualization of expression trends. Customizable settings for dimensionality reduction, data normalization, along with visualization parameters including coloring and filters, ensure adaptability to a variety of user uploaded data. CONCLUSION: This local and cloud-hosted web browser app enables investigation of any -omic data matrix in a rapid and code-independent manner. With the continued growth of available -omic data, the ability to quickly evaluate a dataset, including specific genes of interest, is more important than ever. GECO is intended to supplement traditional statistical analysis methods and is particularly useful when visualizing clusters of genes with similar trajectories across many samples (ex: multiple cell types, time course, dose response). Users will be empowered to investigate -omic data with a new lens of visualization and analysis that has the potential to uncover genes of interest, cohorts of co-regulated genes programs, and previously undetected patterns of expression.
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Análise por Conglomerados , Visualização de Dados , Expressão Gênica , Análise de Sequência de RNA , SoftwareRESUMO
BACKGROUND: Whole genome re-sequencing provides powerful data for population genomic studies, allowing robust inferences of population structure, gene flow and evolutionary history. For the major malaria vector in Africa, Anopheles gambiae, other genetic aspects such as selection and adaptation are also important. In the present study, we explore population genetic variation from genome-wide sequencing of 765 An. gambiae and An. coluzzii specimens collected from across Africa. We used t-SNE, a recently popularized dimensionality reduction method, to create a 2D-map of An. gambiae and An. coluzzii genes that reflect their population structure similarities. RESULTS: The map allows intuitive navigation among genes distributed throughout the so-called "mainland" and numerous surrounding "island-like" gene clusters. These gene clusters of various sizes correspond predominantly to low recombination genomic regions such as inversions and centromeres, and also to recent selective sweeps. Because this mosquito species complex has been studied extensively, we were able to support our interpretations with previously published findings. Several novel observations and hypotheses are also made, including selective sweeps and a multi-locus selection event in Guinea-Bissau, a known intense hybridization zone between An. gambiae and An. coluzzii. CONCLUSIONS: Our results present a rich dataset that could be utilized in functional investigations aiming to shed light onto An. gambiae s.l genome evolution and eventual speciation. In addition, the methodology presented here can be used to further characterize other species not so well studied as An. gambiae, shortening the time required to progress from field sampling to the identification of genes and genomic regions under unique evolutionary processes.
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Anopheles , Malária , África , Animais , Anopheles/genética , Guiné-Bissau , Ilhas , Malária/genética , Mosquitos Vetores/genéticaRESUMO
Enhancers are regulatory elements involved in gene expression.It is a part of DNA, which can enhance the transcription rate of gene. However, the identification of enhancer by biological experimental methods is time-consuming and expensive. Therefore, there is an urgent need for more efficient methods to identify them.In this study, we propose a new feature extraction method RKPK, which combines three feature methods and uses the recursive feature elimination algorithm for feature selection, and apply deep neural network as classifier to construct the iEnhancer-RD calculation method for enhancer identification. It is a two-layer classification architecture in which the first layer(layer I) identifies enhancers from a set of DNA sequences, and the second layer(layer II) divides the identified enhancers into two subgroups, namely strong and weak enhancers. Independent dataset test indicates that the proposed method is significantly better than most existing methods, and attains the accuracy of 78.8% and 70.5% in the two layers, respectively. Our iEnhancer-RD architecture is implemented in Python and is available at https://github.com/YangHuan639/iEnhancer-RD.