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Goldberger, J.

Publications and source records attributed to Goldberger, J..

7 recordsLinked to original sources

Robustness measures for cell type classification in single-cell RNA-seq datasets of kidney organoids

Background: Induced pluripotent stem cell (iPSC)-derived kidney organoids hold great promise for disease modeling, drug screening, and regenerative medicine. However, since these organoids are synthetic constructs, it is essential to evaluate how faithfully their constituent cell populations recapitulate the corresponding cell types in the native kidney. Single-cell transcriptomic label-transfer tools, which assign cell-type labels by integrating cells with well-annotated reference data and classifying them, are increasingly used for this purpose. Yet the reliability of the resulting labels - particularly for immature or partially differentiated cells that might have no clear in vivo counterpart - has not been systematically addressed. Methodology: To quantify the reliability of cell-type labels assigned by label-transfer algorithms, we introduce two complementary robustness measures for each cell type - the classification stability score, which assesses label stability under simulated Poisson noise, and the prediction specificity score, which assesses how well the predicted cell-type label probabilities match the assigned labels. We apply this methodology to scRNA-seq datasets from the human fetal kidney and four iPSC-derived kidney organoid protocols, using a mouse fetal kidney dataset as a reference. Results: We find that label-transfer robustness scores are generally high in most human fetal kidney cell types, except for cells of immature epithelial structures. In the organoid-derived cell subpopulations, robustness scores are high for the cap mesenchyme but vary for epithelial lineages according to each protocol's specific differentiation strategy. These observations are consistent across both classification stability and prediction specificity scores, which are generally well correlated with each other. We further validate our approach through a simulated cell-removal experiment, confirming that the proposed measures correctly identify unreliable classifications. Significance: These robustness measures provide a generalizable framework for assessing the reliability of cell-type label transfer in single-cell transcriptomic datasets, and can be extended to other biomedical settings that rely on automated single-cell classification.

genomics↗

Deep learning framework for kinematic event detection and stimulation decoding in primate reaching behavior

Accurate analysis of motor behavior requires the reliable detection of ongoing kinematic events and a granular characterization of the changes in motor output that occur in response to neural impairments. This article describes a deep learning framework based on bidirectional long short-term memory (BiLSTM) networks developed to analyze single-trial three-dimensional reaching trajectories recorded from two non-human primates. The framework was used to detect movement onset and corrective turning points, and to differentiate control from the perturbed trials during which cerebellar output was blocked. This approach was compared to manually annotated data. Only small within-animal errors in detecting movement onset times were observed (8.92 {+/-} 2.03 ms and 9.56 {+/-} 3.64 ms for the two monkeys). These errors were significantly smaller (p < 0.001) than those obtained using conventional velocity-threshold methods. Transferring the same detection algorithm from one animal to the other resulted in large errors because the reconstructed workspaces were represented in different coordinate frames. Orthogonal Procrustes alignment substantially reduced the between-animal event-detection errors, and brought performance closer to the within-animal range. Decoding of the perturbed vs. the control trials achieved above-chance levels of accuracy for each animal (accuracies of 71.0% and 61.9% respectively). However, the between-animal generalization was poor (near chance level) and was not improved by geometric alignment. These findings suggest that geometric alignment can support the transfer of shared kinematic event structure between animals, but that perturbation-related changes in movements reflect animal-specific compensatory strategies which cannot be generalized.

animal behavior and cognition↗

Dynamics of cell states and alternative splicing following kidney ischemia-reperfusion injury

The progression of kidney damage in chronic kidney disease (CKD) involves multiple post-injury stages and complex cellular and molecular mechanisms that are not yet fully understood. In our study we set to characterize the dynamics of mRNA splicing following kidney injury. To this end, we analyzed publicly available bulk RNA-seq data covering nine time points following a kidney ischemia-reperfusion injury (IRI) mouse experiment. Using topic modeling we discerned five distinct temporal phases corresponding to the following cell states: "early injury response", "injury", "repairing", "failed recovery", and "healthy proximal tubule". Additionally, we discovered a set of genes that are alternatively spliced between selected time points associated with these cell states, some of which are related to injury, stress, EMT, and apoptosis. Finally, we found several putative splicing regulators that are differentially expressed between the different time points and whose binding motifs are enriched in the vicinity of alternatively spliced exons, indicating that they may play critical roles in mRNA splicing dynamics following kidney injury and repair. These findings enhance our understanding of the molecular mechanisms involved in kidney injury and repair, offering potential avenues for developing targeted therapeutic strategies for acute kidney injury (AKI) and its progression to CKD.

genomics↗

Characterization of alternative splicing in high-risk Wilms tumors

The significant heterogeneity of Wilms tumors between different patients is thought to arise from genetic and epigenetic distortions that occur during various stages of fetal kidney development in a way that is poorly understood. To address this, we characterized the heterogeneity of alternative mRNA splicing in Wilms tumors using a publicly available RNAseq dataset of high-risk Wilms tumors and normal kidney samples. Through Pareto task inference and cell deconvolution, we found that the tumors and normal kidney samples are organized according to progressive stages of kidney development within a triangle-shaped region in latent space, whose vertices, or "archetypes," resemble the cap mesenchyme, the nephrogenic stroma, and epithelial tubular structures of the fetal kidney. We identified a set of genes that are alternatively spliced between tumors located in different regions of latent space and found that many of these genes are associated with the Epithelial to Mesenchymal Transition (EMT) and muscle development. Using motif enrichment analysis, we identified putative splicing regulators, some of which are associated with kidney development. Our findings provide new insights into the etiology of Wilms tumors and suggest that specific splicing mechanisms in early stages of development may contribute to tumor development in different patients.

cancer biology↗

Uncovering cellular processes in HeLa cells using unsupervised machine learning

Gene expression measurements of tissues, tumors, or cell lines taken over multiple time points are valuable for describing dynamic biological phenomena such as the response to growth factors. However, such phenomena typically involve multiple biological processes occurring in parallel, making it difficult to identify and discern their respective contributions at any time point. Here, we demonstrate the use of unsupervised machine learning to deconvolve a series of time-dependent gene expression measurements into its underlying temporal components. We first downloaded publicly available RNAseq data obtained from synchronized HeLa cells at consecutive time points following release from cell cycle arrest. Then, we used Fourier analysis and Topic modeling to reveal three underlying components and their relative contributions at each time point. We identified two temporal components with oscillatory behavior, corresponding to the G1-S and G2-M phases of the cell cycle, and a third component with a transient expression pattern, associated with the immediate-early response gene program, regulation of cell proliferation, and cervical cancer. This study demonstrates the use of unsupervised machine learning to identify hidden temporal components in biological systems, with potential applications to early detection and monitoring of diseases and recovery processes.

genomics↗

Characterization of the continuous transcriptional heterogeneity in Wilms tumors using unsupervised machine learning

Wilms tumors are pediatric malignancies that are thought to arise from faulty kidney development. To date, the course of treatment depends on manual histopathological classification which is difficult since the tumors differ between patients in a continuous manner. Here, we used three computational approaches to characterize the continuous heterogeneity of Wilms tumors. We first chose a published dataset of microarray gene expression measurements from high-risk blastemal-type Wilms tumors. Then, we used Pareto Task Inference to show that the tumors form a triangle-shaped continuum in latent space that is bounded by three tumor archetypes with "stromal", "epithelial", and "blastemal" characteristics, that resemble the un-induced mesenchyme, the Cap mesenchyme, and early epithelial structures of the fetal kidney. We confirmed this by fitting a generative probabilistic "grade of membership" model whereby each tumor is represented as a unique mixture of three hidden "topics" with blastemal, stromal, and epithelial characteristics. Finally, we used cellular deconvolution to show that each tumor is composed of a unique mixture of cell populations resembling the un-induced mesenchyme, the cap mesenchyme, and the early epithelial structures of the fetal kidney. We anticipate that these methodologies will pave the way for more quantitative strategies for tumor stratification and classification.

cancer biology↗

Regions of Highly Recurrent Electrogram Morphology at Sites of Low Cycle Length Accurately Reflect Arrhythmogenic Substrate for Atrial Fibrillation - Implications For a New, Mechanism Guided Therapeutic Approach for Atrial Fibrillation

BackgroundAlthough atrial electrograms (EGMs) are thought to reflect pathophysiological substrate for atrial fibrillation (AF), it is not known which electrograms are suitable targets during AF ablation. We hypothesized that electrogram morphology recurrence (EMR) better reflects arrhythmogenic AF substrate than traditional frequency and complexity measures of AF. In a canine rapid atrial pacing (RAP) model of AF, we assessed the relationship between EMR and traditional AF electrogram measures, rotational activity in the atria, fibrosis, myofiber orientation and parasympathetic innervation. MethodsPersistent AF was induced in 13 dogs by RAP for 6-8 weeks. High-density epicardial mapping (117 electrodes) was performed in six atrial sub-regions. EMR measures Recurrence percentage (Rec%) and cycle length of the most frequent electrogram morphology (CLR), Fractionated Interval (FI), Organization Index (OI), Dominant Frequency (DF) and Shannons Entropy (ShEn) were analyzed before and after atropine administration. Myocyte fiber orientation, amount of fibrosis and spatial distribution of parasympathetic nerve fibers were quantified. ResultsRec% was greatest in the appendages, and CLR was lowest in the posterior left atrium. Rec%/CLR correlated with FI, OI and the complexity measure ShEn, but not with DF. All electrogram measures were poorly correlated with fibrosis and myofiber anisotropy. Rec% correlated closely with stability of rotational activity. Unlike other measures, Rec% correlated closely with spatial heterogeneity of parasympathetic nerve fibers; this was reflected in CLR response to atropine. ConclusionEMR correlates closely with stability of rotational activity and with the pattern of atrial parasympathetic innervation. CLR may therefore be a viable therapeutic target in persistent AF.

physiology↗