Dataset Information

A Comprehensive Evaluation of Generalizability of Deep Learning-Based Hi-C Resolution Improvement Methods.

ABSTRACT: Hi-C is a widely used technique to study the 3D organization of the genome. Due to its high sequencing cost, most of the generated datasets are of a coarse resolution, which makes it impractical to study finer chromatin features such as Topologically Associating Domains (TADs) and chromatin loops. Multiple deep learning-based methods have recently been proposed to increase the resolution of these datasets by imputing Hi-C reads (typically called upscaling). However, the existing works evaluate these methods on either synthetically downsampled datasets, or a small subset of experimentally generated sparse Hi-C datasets, making it hard to establish their generalizability in the real-world use case. We present our framework-Hi-CY-that compares existing Hi-C resolution upscaling methods on seven experimentally generated low-resolution Hi-C datasets belonging to various levels of read sparsities originating from three cell lines on a comprehensive set of evaluation metrics. Hi-CY also includes four downstream analysis tasks, such as TAD and chromatin loops recall, to provide a thorough report on the generalizability of these methods. We observe that existing deep learning methods fail to generalize to experimentally generated sparse Hi-C datasets, showing a performance reduction of up to 57%. As a potential solution, we find that retraining deep learning-based methods with experimentally generated Hi-C datasets improves performance by up to 31%. More importantly, Hi-CY shows that even with retraining, the existing deep learning-based methods struggle to recover biological features such as chromatin loops and TADs when provided with sparse Hi-C datasets. Our study, through the Hi-CY framework, highlights the need for rigorous evaluation in the future. We identify specific avenues for improvements in the current deep learning-based Hi-C upscaling methods, including but not limited to using experimentally generated datasets for training.

SUBMITTER: Murtaza G

PROVIDER: S-EPMC10815746 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature

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A Comprehensive Evaluation of Generalizability of Deep Learning-Based Hi-C Resolution Improvement Methods.

Murtaza Ghulam G Jain Atishay A Hughes Madeline M Wagner Justin J Singh Ritambhara R

Genes 20231229 1

Hi-C is a widely used technique to study the 3D organization of the genome. Due to its high sequencing cost, most of the generated datasets are of a coarse resolution, which makes it impractical to study finer chromatin features such as Topologically Associating Domains (TADs) and chromatin loops. Multiple deep learning-based methods have recently been proposed to increase the resolution of these datasets by imputing Hi-C reads (typically called upscaling). However, the existing works evaluate t ...[more]

PMID: 38254945

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Project description:ObjectiveWe aimed to investigate whether image standardization using deep learning-based computed tomography (CT) image conversion would improve the performance of deep learning-based automated hepatic segmentation across various reconstruction methods.Materials and methodsWe collected contrast-enhanced dual-energy CT of the abdomen that was obtained using various reconstruction methods, including filtered back projection, iterative reconstruction, optimum contrast, and monoenergetic images with 40, 60, and 80 keV. A deep learning based image conversion algorithm was developed to standardize the CT images using 142 CT examinations (128 for training and 14 for tuning). A separate set of 43 CT examinations from 42 patients (mean age, 10.1 years) was used as the test data. A commercial software program (MEDIP PRO v2.0.0.0, MEDICALIP Co. Ltd.) based on 2D U-NET was used to create liver segmentation masks with liver volume. The original 80 keV images were used as the ground truth. We used the paired t-test to compare the segmentation performance in the Dice similarity coefficient (DSC) and difference ratio of the liver volume relative to the ground truth volume before and after image standardization. The concordance correlation coefficient (CCC) was used to assess the agreement between the segmented liver volume and ground-truth volume.ResultsThe original CT images showed variable and poor segmentation performances. The standardized images achieved significantly higher DSCs for liver segmentation than the original images (DSC [original, 5.40%-91.27%] vs. [standardized, 93.16%-96.74%], all P < 0.001). The difference ratio of liver volume also decreased significantly after image conversion (original, 9.84%-91.37% vs. standardized, 1.99%-4.41%). In all protocols, CCCs improved after image conversion (original, -0.006-0.964 vs. standardized, 0.990-0.998).ConclusionDeep learning-based CT image standardization can improve the performance of automated hepatic segmentation using CT images reconstructed using various methods. Deep learning-based CT image conversion may have the potential to improve the generalizability of the segmentation network.

Project description:BackgroundDiabetes mellitus (DM) is a chronic disease with hyperglycemia. If not treated in time, it may lead to lower limb amputation. At the initial stage, the detection of diabetes-related foot ulcer (DFU) is very difficult. Deep learning has demonstrated state-of-the-art performance in various fields and has been used to analyze images of DFUs.ObjectiveThis article reviewed current applications of deep learning to the early detection of DFU to avoid limb amputation or infection.MethodsRelevant literature on deep learning models, including in the classification, object detection, and semantic segmentation for images of DFU, published during the past 10 years, were analyzed.ResultsCurrently, the primary uses of deep learning in early DFU detection are related to different algorithms. For classification tasks, improved classification models were all based on convolutional neural networks (CNNs). The model with parallel convolutional layers based on GoogLeNet and the ensemble model outperformed the other models in classification accuracy. For object detection tasks, the models were based on architectures such as faster R-CNN, You-Only-Look-Once (YOLO) v3, YOLO v5, or EfficientDet. The refinements on YOLO v3 models achieved an accuracy of 91.95% and the model with an adaptive faster R-CNN architecture achieved a mean average precision (mAP) of 91.4%, which outperformed the other models. For semantic segmentation tasks, the models were based on architectures such as fully convolutional networks (FCNs), U-Net, V-Net, or SegNet. The model with U-Net outperformed the other models with an accuracy of 94.96%. Taking segmentation tasks as an example, the models were based on architectures such as mask R-CNN. The model with mask R-CNN obtained a precision value of 0.8632 and a mAP of 0.5084.ConclusionAlthough current research is promising in the ability of deep learning to improve a patient's quality of life, further research is required to better understand the mechanisms of deep learning for DFUs.

Dataset Information

A Comprehensive Evaluation of Generalizability of Deep Learning-Based Hi-C Resolution Improvement Methods.

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A Comprehensive Evaluation of Generalizability of Deep Learning-Based Hi-C Resolution Improvement Methods.

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