scholarly journals Deep Learning-Based Analysis of Face Images as a Screening Tool for Genetic Syndromes

Sensors ◽  
2021 ◽  
Vol 21 (19) ◽  
pp. 6595
Author(s):  
Maciej Geremek ◽  
Krzysztof Szklanny

Approximately 4% of the world’s population suffers from rare diseases. A vast majority of these disorders have a genetic background. The number of genes that have been linked to human diseases is constantly growing, but there are still genetic syndromes that remain to be discovered. The diagnostic yield of genetic testing is continuously developing, and the need for testing is becoming more significant. Due to limited resources, including trained clinical geneticists, patients referred to clinical genetics units must be accurately selected. Around 30–40% of genetic disorders are associated with specific facial characteristics called dysmorphic features. As part of our research, we analyzed the performance of classifiers based on deep learning face recognition models in detecting dysmorphic features. We tested two classification problems: a multiclass problem (15 genetic disorders vs. controls) and a two-class problem (disease vs. controls). In the multiclass task, the best result reached an accuracy level of 84%. The best accuracy result in the two-class problem reached 96%. More importantly, the binary classifier detected disease features in patients with diseases that were not previously present in the training dataset. The classifier was able to generalize differences between patients and controls, and to detect abnormalities without information about the specific disorder. This indicates that a screening tool based on deep learning and facial recognition could not only detect known diseases, but also detect patients with diseases that were not previously known. In the future, this tool could help in screening patients before they are referred to the genetic unit.

2018 ◽  
Vol 10 (11) ◽  
pp. 1690 ◽  
Author(s):  
M Bah ◽  
Adel Hafiane ◽  
Raphael Canals

In recent years, weeds have been responsible for most agricultural yield losses. To deal with this threat, farmers resort to spraying the fields uniformly with herbicides. This method not only requires huge quantities of herbicides but impacts the environment and human health. One way to reduce the cost and environmental impact is to allocate the right doses of herbicide to the right place and at the right time (precision agriculture). Nowadays, unmanned aerial vehicles (UAVs) are becoming an interesting acquisition system for weed localization and management due to their ability to obtain images of the entire agricultural field with a very high spatial resolution and at a low cost. However, despite significant advances in UAV acquisition systems, the automatic detection of weeds remains a challenging problem because of their strong similarity to the crops. Recently, a deep learning approach has shown impressive results in different complex classification problems. However, this approach needs a certain amount of training data, and creating large agricultural datasets with pixel-level annotations by an expert is an extremely time-consuming task. In this paper, we propose a novel fully automatic learning method using convolutional neuronal networks (CNNs) with an unsupervised training dataset collection for weed detection from UAV images. The proposed method comprises three main phases. First, we automatically detect the crop rows and use them to identify the inter-row weeds. In the second phase, inter-row weeds are used to constitute the training dataset. Finally, we perform CNNs on this dataset to build a model able to detect the crop and the weeds in the images. The results obtained are comparable to those of traditional supervised training data labeling, with differences in accuracy of 1.5% in the spinach field and 6% in the bean field.


GigaScience ◽  
2021 ◽  
Vol 10 (5) ◽  
Author(s):  
Teng Miao ◽  
Weiliang Wen ◽  
Yinglun Li ◽  
Sheng Wu ◽  
Chao Zhu ◽  
...  

Abstract Background The 3D point cloud is the most direct and effective data form for studying plant structure and morphology. In point cloud studies, the point cloud segmentation of individual plants to organs directly determines the accuracy of organ-level phenotype estimation and the reliability of the 3D plant reconstruction. However, highly accurate, automatic, and robust point cloud segmentation approaches for plants are unavailable. Thus, the high-throughput segmentation of many shoots is challenging. Although deep learning can feasibly solve this issue, software tools for 3D point cloud annotation to construct the training dataset are lacking. Results We propose a top-to-down point cloud segmentation algorithm using optimal transportation distance for maize shoots. We apply our point cloud annotation toolkit for maize shoots, Label3DMaize, to achieve semi-automatic point cloud segmentation and annotation of maize shoots at different growth stages, through a series of operations, including stem segmentation, coarse segmentation, fine segmentation, and sample-based segmentation. The toolkit takes ∼4–10 minutes to segment a maize shoot and consumes 10–20% of the total time if only coarse segmentation is required. Fine segmentation is more detailed than coarse segmentation, especially at the organ connection regions. The accuracy of coarse segmentation can reach 97.2% that of fine segmentation. Conclusion Label3DMaize integrates point cloud segmentation algorithms and manual interactive operations, realizing semi-automatic point cloud segmentation of maize shoots at different growth stages. The toolkit provides a practical data annotation tool for further online segmentation research based on deep learning and is expected to promote automatic point cloud processing of various plants.


2021 ◽  
Vol 13 (9) ◽  
pp. 1779
Author(s):  
Xiaoyan Yin ◽  
Zhiqun Hu ◽  
Jiafeng Zheng ◽  
Boyong Li ◽  
Yuanyuan Zuo

Radar beam blockage is an important error source that affects the quality of weather radar data. An echo-filling network (EFnet) is proposed based on a deep learning algorithm to correct the echo intensity under the occlusion area in the Nanjing S-band new-generation weather radar (CINRAD/SA). The training dataset is constructed by the labels, which are the echo intensity at the 0.5° elevation in the unblocked area, and by the input features, which are the intensity in the cube including multiple elevations and gates corresponding to the location of bottom labels. Two loss functions are applied to compile the network: one is the common mean square error (MSE), and the other is a self-defined loss function that increases the weight of strong echoes. Considering that the radar beam broadens with distance and height, the 0.5° elevation scan is divided into six range bands every 25 km to train different models. The models are evaluated by three indicators: explained variance (EVar), mean absolute error (MAE), and correlation coefficient (CC). Two cases are demonstrated to compare the effect of the echo-filling model by different loss functions. The results suggest that EFnet can effectively correct the echo reflectivity and improve the data quality in the occlusion area, and there are better results for strong echoes when the self-defined loss function is used.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Mu Sook Lee ◽  
Yong Soo Kim ◽  
Minki Kim ◽  
Muhammad Usman ◽  
Shi Sub Byon ◽  
...  

AbstractWe examined the feasibility of explainable computer-aided detection of cardiomegaly in routine clinical practice using segmentation-based methods. Overall, 793 retrospectively acquired posterior–anterior (PA) chest X-ray images (CXRs) of 793 patients were used to train deep learning (DL) models for lung and heart segmentation. The training dataset included PA CXRs from two public datasets and in-house PA CXRs. Two fully automated segmentation-based methods using state-of-the-art DL models for lung and heart segmentation were developed. The diagnostic performance was assessed and the reliability of the automatic cardiothoracic ratio (CTR) calculation was determined using the mean absolute error and paired t-test. The effects of thoracic pathological conditions on performance were assessed using subgroup analysis. One thousand PA CXRs of 1000 patients (480 men, 520 women; mean age 63 ± 23 years) were included. The CTR values derived from the DL models and diagnostic performance exhibited excellent agreement with reference standards for the whole test dataset. Performance of segmentation-based methods differed based on thoracic conditions. When tested using CXRs with lesions obscuring heart borders, the performance was lower than that for other thoracic pathological findings. Thus, segmentation-based methods using DL could detect cardiomegaly; however, the feasibility of computer-aided detection of cardiomegaly without human intervention was limited.


2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Young-Gon Kim ◽  
Sungchul Kim ◽  
Cristina Eunbee Cho ◽  
In Hye Song ◽  
Hee Jin Lee ◽  
...  

AbstractFast and accurate confirmation of metastasis on the frozen tissue section of intraoperative sentinel lymph node biopsy is an essential tool for critical surgical decisions. However, accurate diagnosis by pathologists is difficult within the time limitations. Training a robust and accurate deep learning model is also difficult owing to the limited number of frozen datasets with high quality labels. To overcome these issues, we validated the effectiveness of transfer learning from CAMELYON16 to improve performance of the convolutional neural network (CNN)-based classification model on our frozen dataset (N = 297) from Asan Medical Center (AMC). Among the 297 whole slide images (WSIs), 157 and 40 WSIs were used to train deep learning models with different dataset ratios at 2, 4, 8, 20, 40, and 100%. The remaining, i.e., 100 WSIs, were used to validate model performance in terms of patch- and slide-level classification. An additional 228 WSIs from Seoul National University Bundang Hospital (SNUBH) were used as an external validation. Three initial weights, i.e., scratch-based (random initialization), ImageNet-based, and CAMELYON16-based models were used to validate their effectiveness in external validation. In the patch-level classification results on the AMC dataset, CAMELYON16-based models trained with a small dataset (up to 40%, i.e., 62 WSIs) showed a significantly higher area under the curve (AUC) of 0.929 than those of the scratch- and ImageNet-based models at 0.897 and 0.919, respectively, while CAMELYON16-based and ImageNet-based models trained with 100% of the training dataset showed comparable AUCs at 0.944 and 0.943, respectively. For the external validation, CAMELYON16-based models showed higher AUCs than those of the scratch- and ImageNet-based models. Model performance for slide feasibility of the transfer learning to enhance model performance was validated in the case of frozen section datasets with limited numbers.


2021 ◽  
Vol 11 (9) ◽  
pp. 3863
Author(s):  
Ali Emre Öztürk ◽  
Ergun Erçelebi

A large amount of training image data is required for solving image classification problems using deep learning (DL) networks. In this study, we aimed to train DL networks with synthetic images generated by using a game engine and determine the effects of the networks on performance when solving real-image classification problems. The study presents the results of using corner detection and nearest three-point selection (CDNTS) layers to classify bird and rotary-wing unmanned aerial vehicle (RW-UAV) images, provides a comprehensive comparison of two different experimental setups, and emphasizes the significant improvements in the performance in deep learning-based networks due to the inclusion of a CDNTS layer. Experiment 1 corresponds to training the commonly used deep learning-based networks with synthetic data and an image classification test on real data. Experiment 2 corresponds to training the CDNTS layer and commonly used deep learning-based networks with synthetic data and an image classification test on real data. In experiment 1, the best area under the curve (AUC) value for the image classification test accuracy was measured as 72%. In experiment 2, using the CDNTS layer, the AUC value for the image classification test accuracy was measured as 88.9%. A total of 432 different combinations of trainings were investigated in the experimental setups. The experiments were trained with various DL networks using four different optimizers by considering all combinations of batch size, learning rate, and dropout hyperparameters. The test accuracy AUC values for networks in experiment 1 ranged from 55% to 74%, whereas the test accuracy AUC values in experiment 2 networks with a CDNTS layer ranged from 76% to 89.9%. It was observed that the CDNTS layer has considerable effects on the image classification accuracy performance of deep learning-based networks. AUC, F-score, and test accuracy measures were used to validate the success of the networks.


Sensors ◽  
2021 ◽  
Vol 21 (11) ◽  
pp. 3813
Author(s):  
Athanasios Anagnostis ◽  
Aristotelis C. Tagarakis ◽  
Dimitrios Kateris ◽  
Vasileios Moysiadis ◽  
Claus Grøn Sørensen ◽  
...  

This study aimed to propose an approach for orchard trees segmentation using aerial images based on a deep learning convolutional neural network variant, namely the U-net network. The purpose was the automated detection and localization of the canopy of orchard trees under various conditions (i.e., different seasons, different tree ages, different levels of weed coverage). The implemented dataset was composed of images from three different walnut orchards. The achieved variability of the dataset resulted in obtaining images that fell under seven different use cases. The best-trained model achieved 91%, 90%, and 87% accuracy for training, validation, and testing, respectively. The trained model was also tested on never-before-seen orthomosaic images or orchards based on two methods (oversampling and undersampling) in order to tackle issues with out-of-the-field boundary transparent pixels from the image. Even though the training dataset did not contain orthomosaic images, it achieved performance levels that reached up to 99%, demonstrating the robustness of the proposed approach.


Animals ◽  
2021 ◽  
Vol 11 (6) ◽  
pp. 1549
Author(s):  
Robert D. Chambers ◽  
Nathanael C. Yoder ◽  
Aletha B. Carson ◽  
Christian Junge ◽  
David E. Allen ◽  
...  

Collar-mounted canine activity monitors can use accelerometer data to estimate dog activity levels, step counts, and distance traveled. With recent advances in machine learning and embedded computing, much more nuanced and accurate behavior classification has become possible, giving these affordable consumer devices the potential to improve the efficiency and effectiveness of pet healthcare. Here, we describe a novel deep learning algorithm that classifies dog behavior at sub-second resolution using commercial pet activity monitors. We built machine learning training databases from more than 5000 videos of more than 2500 dogs and ran the algorithms in production on more than 11 million days of device data. We then surveyed project participants representing 10,550 dogs, which provided 163,110 event responses to validate real-world detection of eating and drinking behavior. The resultant algorithm displayed a sensitivity and specificity for detecting drinking behavior (0.949 and 0.999, respectively) and eating behavior (0.988, 0.983). We also demonstrated detection of licking (0.772, 0.990), petting (0.305, 0.991), rubbing (0.729, 0.996), scratching (0.870, 0.997), and sniffing (0.610, 0.968). We show that the devices’ position on the collar had no measurable impact on performance. In production, users reported a true positive rate of 95.3% for eating (among 1514 users), and of 94.9% for drinking (among 1491 users). The study demonstrates the accurate detection of important health-related canine behaviors using a collar-mounted accelerometer. We trained and validated our algorithms on a large and realistic training dataset, and we assessed and confirmed accuracy in production via user validation.


2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Niraj Thapa ◽  
Meenal Chaudhari ◽  
Anthony A. Iannetta ◽  
Clarence White ◽  
Kaushik Roy ◽  
...  

AbstractProtein phosphorylation, which is one of the most important post-translational modifications (PTMs), is involved in regulating myriad cellular processes. Herein, we present a novel deep learning based approach for organism-specific protein phosphorylation site prediction in Chlamydomonas reinhardtii, a model algal phototroph. An ensemble model combining convolutional neural networks and long short-term memory (LSTM) achieves the best performance in predicting phosphorylation sites in C. reinhardtii. Deemed Chlamy-EnPhosSite, the measured best AUC and MCC are 0.90 and 0.64 respectively for a combined dataset of serine (S) and threonine (T) in independent testing higher than those measures for other predictors. When applied to the entire C. reinhardtii proteome (totaling 1,809,304 S and T sites), Chlamy-EnPhosSite yielded 499,411 phosphorylated sites with a cut-off value of 0.5 and 237,949 phosphorylated sites with a cut-off value of 0.7. These predictions were compared to an experimental dataset of phosphosites identified by liquid chromatography-tandem mass spectrometry (LC–MS/MS) in a blinded study and approximately 89.69% of 2,663 C. reinhardtii S and T phosphorylation sites were successfully predicted by Chlamy-EnPhosSite at a probability cut-off of 0.5 and 76.83% of sites were successfully identified at a more stringent 0.7 cut-off. Interestingly, Chlamy-EnPhosSite also successfully predicted experimentally confirmed phosphorylation sites in a protein sequence (e.g., RPS6 S245) which did not appear in the training dataset, highlighting prediction accuracy and the power of leveraging predictions to identify biologically relevant PTM sites. These results demonstrate that our method represents a robust and complementary technique for high-throughput phosphorylation site prediction in C. reinhardtii. It has potential to serve as a useful tool to the community. Chlamy-EnPhosSite will contribute to the understanding of how protein phosphorylation influences various biological processes in this important model microalga.


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