An Attention-Based Deep Learning Method for Schizophrenia Patients Classification Using DNA Methylation Data*

Author(s):  
Minmin Zhang ◽  
Changchun Pan ◽  
Haichun Liu ◽  
Qinting Zhang ◽  
Haozhe Li
2018 ◽  
Author(s):  
Peng Ni ◽  
Neng Huang ◽  
Feng Luo ◽  
Jianxin Wang

AbstractThe Oxford Nanopore sequencing enables to directly detect methylation sites in DNA from reads without extra laboratory techniques. In this study, we develop DeepSignal, a deep learning method to detect DNA methylated sites from Nanopore sequencing reads. DeepSignal construct features from both raw electrical signals and signal sequences in Nanopore reads. Testing on Nanopore reads of pUC19, E. coli and human, we show that DeepSignal can achieve both higher read level and genome level accuracy on detecting 6mA and 5mC methylation comparing to previous HMM based methods. Moreover, DeepSignal achieves similar performance cross different methylation bases and different methylation motifs. Furthermore, DeepSignal can detect 5mC and 6mA methylation states of genome sites with above 90% genome level accuracy under just 5X coverage using controlled methylation data.


2019 ◽  
Vol 20 (S18) ◽  
Author(s):  
Zhenxing Wang ◽  
Yadong Wang

Abstract Background Lung cancer is one of the most malignant tumors, causing over 1,000,000 deaths each year worldwide. Deep learning has brought success in many domains in recent years. DNA methylation, an epigenetic factor, is used for model training in many studies. There is an opportunity for deep learning methods to analyze the lung cancer epigenetic data to determine their subtypes for appropriate treatment. Results Here, we employ variational autoencoders (VAEs), an unsupervised deep learning framework, on 450K DNA methylation data of TCGA-LUAD and TCGA-LUSC to learn latent representations of the DNA methylation landscape. We extract a biologically relevant latent space of LUAD and LUSC samples. It is showed that the bivariate classifiers on the further compressed latent features could classify the subtypes accurately. Through clustering of methylation-based latent space features, we demonstrate that the VAEs can capture differential methylation patterns about subtypes of lung cancer. Conclusions VAEs can distinguish the original subtypes from manually mixed methylation data frame with the encoded features of latent space. Further applications about VAEs should focus on fine-grained subtypes identification for precision medicine.


Genes ◽  
2019 ◽  
Vol 10 (10) ◽  
pp. 778 ◽  
Author(s):  
Liu ◽  
Liu ◽  
Pan ◽  
Li ◽  
Yang ◽  
...  

For cancer diagnosis, many DNA methylation markers have been identified. However, few studies have tried to identify DNA methylation markers to diagnose diverse cancer types simultaneously, i.e., pan-cancers. In this study, we tried to identify DNA methylation markers to differentiate cancer samples from the respective normal samples in pan-cancers. We collected whole genome methylation data of 27 cancer types containing 10,140 cancer samples and 3386 normal samples, and divided all samples into five data sets, including one training data set, one validation data set and three test data sets. We applied machine learning to identify DNA methylation markers, and specifically, we constructed diagnostic prediction models by deep learning. We identified two categories of markers: 12 CpG markers and 13 promoter markers. Three of 12 CpG markers and four of 13 promoter markers locate at cancer-related genes. With the CpG markers, our model achieved an average sensitivity and specificity on test data sets as 92.8% and 90.1%, respectively. For promoter markers, the average sensitivity and specificity on test data sets were 89.8% and 81.1%, respectively. Furthermore, in cell-free DNA methylation data of 163 prostate cancer samples, the CpG markers achieved the sensitivity as 100%, and the promoter markers achieved 92%. For both marker types, the specificity of normal whole blood was 100%. To conclude, we identified methylation markers to diagnose pan-cancers, which might be applied to liquid biopsy of cancers.


Author(s):  
Rocío del Amor ◽  
Adrián Colomer ◽  
Carlos Monteagudo ◽  
Valery Naranjo

AbstractEpigenetic alterations have an important role in the development of several types of cancer. Epigenetic studies generate a large amount of data, which makes it essential to develop novel models capable of dealing with large-scale data. In this work, we propose a deep embedded refined clustering method for breast cancer differentiation based on DNA methylation. In concrete, the deep learning system presented here uses the levels of CpG island methylation between 0 and 1. The proposed approach is composed of two main stages. The first stage consists in the dimensionality reduction of the methylation data based on an autoencoder. The second stage is a clustering algorithm based on the soft assignment of the latent space provided by the autoencoder. The whole method is optimized through a weighted loss function composed of two terms: reconstruction and classification terms. To the best of the authors’ knowledge, no previous studies have focused on the dimensionality reduction algorithms linked to classification trained end-to-end for DNA methylation analysis. The proposed method achieves an unsupervised clustering accuracy of 0.9927 and an error rate (%) of 0.73 on 137 breast tissue samples. After a second test of the deep-learning-based method using a different methylation database, an accuracy of 0.9343 and an error rate (%) of 6.57 on 45 breast tissue samples are obtained. Based on these results, the proposed algorithm outperforms other state-of-the-art methods evaluated under the same conditions for breast cancer classification based on DNA methylation data.


2019 ◽  
Vol 9 (22) ◽  
pp. 4749
Author(s):  
Lingyun Jiang ◽  
Kai Qiao ◽  
Linyuan Wang ◽  
Chi Zhang ◽  
Jian Chen ◽  
...  

Decoding human brain activities, especially reconstructing human visual stimuli via functional magnetic resonance imaging (fMRI), has gained increasing attention in recent years. However, the high dimensionality and small quantity of fMRI data impose restrictions on satisfactory reconstruction, especially for the reconstruction method with deep learning requiring huge amounts of labelled samples. When compared with the deep learning method, humans can recognize a new image because our human visual system is naturally capable of extracting features from any object and comparing them. Inspired by this visual mechanism, we introduced the mechanism of comparison into deep learning method to realize better visual reconstruction by making full use of each sample and the relationship of the sample pair by learning to compare. In this way, we proposed a Siamese reconstruction network (SRN) method. By using the SRN, we improved upon the satisfying results on two fMRI recording datasets, providing 72.5% accuracy on the digit dataset and 44.6% accuracy on the character dataset. Essentially, this manner can increase the training data about from n samples to 2n sample pairs, which takes full advantage of the limited quantity of training samples. The SRN learns to converge sample pairs of the same class or disperse sample pairs of different class in feature space.


2021 ◽  
Author(s):  
Francesco Banterle ◽  
Rui Gong ◽  
Massimiliano Corsini ◽  
Fabio Ganovelli ◽  
Luc Van Gool ◽  
...  

Energies ◽  
2021 ◽  
Vol 14 (15) ◽  
pp. 4595
Author(s):  
Parisa Asadi ◽  
Lauren E. Beckingham

X-ray CT imaging provides a 3D view of a sample and is a powerful tool for investigating the internal features of porous rock. Reliable phase segmentation in these images is highly necessary but, like any other digital rock imaging technique, is time-consuming, labor-intensive, and subjective. Combining 3D X-ray CT imaging with machine learning methods that can simultaneously consider several extracted features in addition to color attenuation, is a promising and powerful method for reliable phase segmentation. Machine learning-based phase segmentation of X-ray CT images enables faster data collection and interpretation than traditional methods. This study investigates the performance of several filtering techniques with three machine learning methods and a deep learning method to assess the potential for reliable feature extraction and pixel-level phase segmentation of X-ray CT images. Features were first extracted from images using well-known filters and from the second convolutional layer of the pre-trained VGG16 architecture. Then, K-means clustering, Random Forest, and Feed Forward Artificial Neural Network methods, as well as the modified U-Net model, were applied to the extracted input features. The models’ performances were then compared and contrasted to determine the influence of the machine learning method and input features on reliable phase segmentation. The results showed considering more dimensionality has promising results and all classification algorithms result in high accuracy ranging from 0.87 to 0.94. Feature-based Random Forest demonstrated the best performance among the machine learning models, with an accuracy of 0.88 for Mancos and 0.94 for Marcellus. The U-Net model with the linear combination of focal and dice loss also performed well with an accuracy of 0.91 and 0.93 for Mancos and Marcellus, respectively. In general, considering more features provided promising and reliable segmentation results that are valuable for analyzing the composition of dense samples, such as shales, which are significant unconventional reservoirs in oil recovery.


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