scholarly journals ImaGene: a convolutional neural network to quantify natural selection from genomic data

2019 ◽  
Vol 20 (S9) ◽  
Author(s):  
Luis Torada ◽  
Lucrezia Lorenzon ◽  
Alice Beddis ◽  
Ulas Isildak ◽  
Linda Pattini ◽  
...  

Abstract Background The genetic bases of many complex phenotypes are still largely unknown, mostly due to the polygenic nature of the traits and the small effect of each associated mutation. An alternative approach to classic association studies to determining such genetic bases is an evolutionary framework. As sites targeted by natural selection are likely to harbor important functionalities for the carrier, the identification of selection signatures in the genome has the potential to unveil the genetic mechanisms underpinning human phenotypes. Popular methods of detecting such signals rely on compressing genomic information into summary statistics, resulting in the loss of information. Furthermore, few methods are able to quantify the strength of selection. Here we explored the use of deep learning in evolutionary biology and implemented a program, called , to apply convolutional neural networks on population genomic data for the detection and quantification of natural selection. Results enables genomic information from multiple individuals to be represented as abstract images. Each image is created by stacking aligned genomic data and encoding distinct alleles into separate colors. To detect and quantify signatures of positive selection, implements a convolutional neural network which is trained using simulations. We show how the method implemented in can be affected by data manipulation and learning strategies. In particular, we show how sorting images by row and column leads to accurate predictions. We also demonstrate how the misspecification of the correct demographic model for producing training data can influence the quantification of positive selection. We finally illustrate an approach to estimate the selection coefficient, a continuous variable, using multiclass classification techniques. Conclusions While the use of deep learning in evolutionary genomics is in its infancy, here we demonstrated its potential to detect informative patterns from large-scale genomic data. We implemented methods to process genomic data for deep learning in a user-friendly program called . The joint inference of the evolutionary history of mutations and their functional impact will facilitate mapping studies and provide novel insights into the molecular mechanisms associated with human phenotypes.

2021 ◽  
Author(s):  
Arnaud Nguembang Fadja ◽  
Fabrizio Riguzzi ◽  
Giorgio Bertorelle ◽  
Emiliano Trucchi

Abstract Background: With the increase in the size of genomic datasets describing variability in populations, extracting relevant information becomes increasingly useful as well as complex. Recently, computational methodologies such as Supervised Machine Learning and specifically Convolutional Neural Networks have been proposed to order to make inferences on demographic and adaptive processes using genomic data, Even though it was already shown to be powerful and efficient in different fields of investigation, Supervised Machine Learning has still to be explored as to unfold its enormous potential in evolutionary genomics. Results: The paper proposes a method based on Supervised Machine Learning for classifying genomic data, represented as windows of genomic sequences from a sample of individuals belonging to the same population. A Convolutional Neural Network is used to test whether a genomic window shows the signature of natural selection. Experiments performed on simulated data show that the proposed model can accurately predict neutral and selection processes on genomic data with more than 99% accuracy.


2021 ◽  
Vol 14 (1) ◽  
Author(s):  
Arnaud Nguembang Fadja ◽  
Fabrizio Riguzzi ◽  
Giorgio Bertorelle ◽  
Emiliano Trucchi

Abstract Background With the increase in the size of genomic datasets describing variability in populations, extracting relevant information becomes increasingly useful as well as complex. Recently, computational methodologies such as Supervised Machine Learning and specifically Convolutional Neural Networks have been proposed to make inferences on demographic and adaptive processes using genomic data. Even though it was already shown to be powerful and efficient in different fields of investigation, Supervised Machine Learning has still to be explored as to unfold its enormous potential in evolutionary genomics. Results The paper proposes a method based on Supervised Machine Learning for classifying genomic data, represented as windows of genomic sequences from a sample of individuals belonging to the same population. A Convolutional Neural Network is used to test whether a genomic window shows the signature of natural selection. Training performed on simulated data show that the proposed model can accurately predict neutral and selection processes on portions of genomes taken from real populations with almost 90% accuracy.


2019 ◽  
Author(s):  
Seoin Back ◽  
Junwoong Yoon ◽  
Nianhan Tian ◽  
Wen Zhong ◽  
Kevin Tran ◽  
...  

We present an application of deep-learning convolutional neural network of atomic surface structures using atomic and Voronoi polyhedra-based neighbor information to predict adsorbate binding energies for the application in catalysis.


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 13 (2) ◽  
pp. 274
Author(s):  
Guobiao Yao ◽  
Alper Yilmaz ◽  
Li Zhang ◽  
Fei Meng ◽  
Haibin Ai ◽  
...  

The available stereo matching algorithms produce large number of false positive matches or only produce a few true-positives across oblique stereo images with large baseline. This undesired result happens due to the complex perspective deformation and radiometric distortion across the images. To address this problem, we propose a novel affine invariant feature matching algorithm with subpixel accuracy based on an end-to-end convolutional neural network (CNN). In our method, we adopt and modify a Hessian affine network, which we refer to as IHesAffNet, to obtain affine invariant Hessian regions using deep learning framework. To improve the correlation between corresponding features, we introduce an empirical weighted loss function (EWLF) based on the negative samples using K nearest neighbors, and then generate deep learning-based descriptors with high discrimination that is realized with our multiple hard network structure (MTHardNets). Following this step, the conjugate features are produced by using the Euclidean distance ratio as the matching metric, and the accuracy of matches are optimized through the deep learning transform based least square matching (DLT-LSM). Finally, experiments on Large baseline oblique stereo images acquired by ground close-range and unmanned aerial vehicle (UAV) verify the effectiveness of the proposed approach, and comprehensive comparisons demonstrate that our matching algorithm outperforms the state-of-art methods in terms of accuracy, distribution and correct ratio. The main contributions of this article are: (i) our proposed MTHardNets can generate high quality descriptors; and (ii) the IHesAffNet can produce substantial affine invariant corresponding features with reliable transform parameters.


Cancers ◽  
2021 ◽  
Vol 13 (4) ◽  
pp. 652 ◽  
Author(s):  
Carlo Augusto Mallio ◽  
Andrea Napolitano ◽  
Gennaro Castiello ◽  
Francesco Maria Giordano ◽  
Pasquale D'Alessio ◽  
...  

Background: Coronavirus disease 2019 (COVID-19) pneumonia and immune checkpoint inhibitor (ICI) therapy-related pneumonitis share common features. The aim of this study was to determine on chest computed tomography (CT) images whether a deep convolutional neural network algorithm is able to solve the challenge of differential diagnosis between COVID-19 pneumonia and ICI therapy-related pneumonitis. Methods: We enrolled three groups: a pneumonia-free group (n = 30), a COVID-19 group (n = 34), and a group of patients with ICI therapy-related pneumonitis (n = 21). Computed tomography images were analyzed with an artificial intelligence (AI) algorithm based on a deep convolutional neural network structure. Statistical analysis included the Mann–Whitney U test (significance threshold at p < 0.05) and the receiver operating characteristic curve (ROC curve). Results: The algorithm showed low specificity in distinguishing COVID-19 from ICI therapy-related pneumonitis (sensitivity 97.1%, specificity 14.3%, area under the curve (AUC) = 0.62). ICI therapy-related pneumonitis was identified by the AI when compared to pneumonia-free controls (sensitivity = 85.7%, specificity 100%, AUC = 0.97). Conclusions: The deep learning algorithm is not able to distinguish between COVID-19 pneumonia and ICI therapy-related pneumonitis. Awareness must be increased among clinicians about imaging similarities between COVID-19 and ICI therapy-related pneumonitis. ICI therapy-related pneumonitis can be applied as a challenge population for cross-validation to test the robustness of AI models used to analyze interstitial pneumonias of variable etiology.


Electronics ◽  
2021 ◽  
Vol 10 (1) ◽  
pp. 81
Author(s):  
Jianbin Xiong ◽  
Dezheng Yu ◽  
Shuangyin Liu ◽  
Lei Shu ◽  
Xiaochan Wang ◽  
...  

Plant phenotypic image recognition (PPIR) is an important branch of smart agriculture. In recent years, deep learning has achieved significant breakthroughs in image recognition. Consequently, PPIR technology that is based on deep learning is becoming increasingly popular. First, this paper introduces the development and application of PPIR technology, followed by its classification and analysis. Second, it presents the theory of four types of deep learning methods and their applications in PPIR. These methods include the convolutional neural network, deep belief network, recurrent neural network, and stacked autoencoder, and they are applied to identify plant species, diagnose plant diseases, etc. Finally, the difficulties and challenges of deep learning in PPIR are discussed.


2021 ◽  
Vol 13 (10) ◽  
pp. 1953
Author(s):  
Seyed Majid Azimi ◽  
Maximilian Kraus ◽  
Reza Bahmanyar ◽  
Peter Reinartz

In this paper, we address various challenges in multi-pedestrian and vehicle tracking in high-resolution aerial imagery by intensive evaluation of a number of traditional and Deep Learning based Single- and Multi-Object Tracking methods. We also describe our proposed Deep Learning based Multi-Object Tracking method AerialMPTNet that fuses appearance, temporal, and graphical information using a Siamese Neural Network, a Long Short-Term Memory, and a Graph Convolutional Neural Network module for more accurate and stable tracking. Moreover, we investigate the influence of the Squeeze-and-Excitation layers and Online Hard Example Mining on the performance of AerialMPTNet. To the best of our knowledge, we are the first to use these two for regression-based Multi-Object Tracking. Additionally, we studied and compared the L1 and Huber loss functions. In our experiments, we extensively evaluate AerialMPTNet on three aerial Multi-Object Tracking datasets, namely AerialMPT and KIT AIS pedestrian and vehicle datasets. Qualitative and quantitative results show that AerialMPTNet outperforms all previous methods for the pedestrian datasets and achieves competitive results for the vehicle dataset. In addition, Long Short-Term Memory and Graph Convolutional Neural Network modules enhance the tracking performance. Moreover, using Squeeze-and-Excitation and Online Hard Example Mining significantly helps for some cases while degrades the results for other cases. In addition, according to the results, L1 yields better results with respect to Huber loss for most of the scenarios. The presented results provide a deep insight into challenges and opportunities of the aerial Multi-Object Tracking domain, paving the way for future research.


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