A review on convolutional neural network based deep learning methods in gene expression data for disease diagnosis

2020 ◽  
Author(s):  
C. Gunavathi ◽  
K. Sivasubramanian ◽  
P. Keerthika ◽  
C. Paramasivam
Keyword(s):  
Neural Network ◽  
Gene Expression ◽  
Deep Learning ◽  
Convolutional Neural Network ◽  
Gene Expression Data ◽  
Disease Diagnosis ◽  
Expression Data ◽  
Learning Methods

scholarly journals A convolutional neural network for predicting transcriptional regulators of genes in Arabidopsis transcriptome data reveals classification based on positive regulatory interactions

2019 ◽  
Author(s):  
Dan MacLean
Keyword(s):  
Neural Network ◽  
Gene Expression ◽  
Neural Networks ◽  
Deep Learning ◽  
Convolutional Neural Network ◽  
Convolutional Neural Networks ◽  
Expression Profiles ◽  
Biological Data ◽  
Expression Data ◽  
Data Set

AbstractGene Regulatory networks that control gene expression are widely studied yet the interactions that make them up are difficult to predict from high throughput data. Deep Learning methods such as convolutional neural networks can perform surprisingly good classifications on a variety of data types and the matrix-like gene expression profiles would seem to be ideal input data for deep learning approaches. In this short study I compiled training sets of expression data using the Arabidopsis AtGenExpress global stress expression data set and known transcription factor-target interactions from the Arabidopsis PLACE database. I built and optimised convolutional neural networks with a best model providing 95 % accuracy of classification on a held-out validation set. Investigation of the activations within this model revealed that classification was based on positive correlation of expression profiles in short sections. This result shows that a convolutional neural network can be used to make classifications and reveal the basis of those calssifications for gene expression data sets, indicating that a convolutional neural network is a useful and interpretable tool for exploratory classification of biological data. The final model is available for download and as a web application.

scholarly journals Explaining decisions of Graph Convolutional Neural Networks: patient-specific molecular subnetworks responsible for metastasis prediction in breast cancer

2020 ◽  
Author(s):  
Hryhorii Chereda ◽  
Annalen Bleckmann ◽  
Kerstin Menck ◽  
Júlia Perera-Bel ◽  
Philip Stegmaier ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Gene Expression ◽  
Neural Networks ◽  
Deep Learning ◽  
Convolutional Neural Networks ◽  
Gene Expression Data ◽  
Molecular Network ◽  
Patient Specific ◽  
Expression Data ◽  
Learning Methods

AbstractMotivationContemporary deep learning approaches show cutting-edge performance in a variety of complex prediction tasks. Nonetheless, the application of deep learning in healthcare remains limited since deep learning methods are often considered as non-interpretable black-box models. Layer-wise Relevance Propagation (LRP) is a technique to explain decisions of deep learning methods. It is widely used to interpret Convolutional Neural Networks (CNNs) applied on image data. Recently, CNNs started to extend towards non-euclidean domains like graphs. Molecular networks are commonly represented as graphs detailing interactions between molecules. Gene expression data can be assigned to the vertices of these graphs. In other words, gene expression data can be structured by utilizing molecular network information as prior knowledge. Graph-CNNs can be applied to structured gene expression data, for example, to predict metastatic events in breast cancer. Therefore, there is a need for explanations showing which part of a molecular network is relevant for predicting an event, e.g. distant metastasis in cancer, for each individual patient.ResultsWe extended the procedure of LRP to make it available for Graph-CNN and tested its applicability on a large breast cancer dataset. We present Graph Layer-wise Relevance Propagation (GLRP) as a new method to explain the decisions made by Graph-CNNs. We demonstrate a sanity check of the developed GLRP on a hand-written digits dataset, and then applied the method on gene expression data. We show that GLRP provides patient-specific molecular subnetworks that largely agree with clinical knowledge and identify common as well as novel, and potentially druggable, drivers of tumor progression. As a result this method could be potentially highly useful on interpreting classification results on the individual patient level, as for example in precision medicine approaches or a molecular tumor board.Availabilityhttps://gitlab.gwdg.de/UKEBpublic/graph-lrphttps://frankkramer-lab.github.io/MetaRelSubNetVis/[email protected]

scholarly journals A Review on Recent Progress in Machine Learning and Deep Learning Methods for Cancer Classification on Gene Expression Data

Processes ◽  
2021 ◽  
Vol 9 (8) ◽  
pp. 1466
Author(s):  
Aina Umairah Mazlan ◽  
Noor Azida Sahabudin ◽  
Muhammad Akmal Remli ◽  
Nor Syahidatul Nadiah Ismail ◽  
Mohd Saberi Mohamad ◽  
...  
Keyword(s):  
Gene Expression ◽  
Machine Learning ◽  
Deep Learning ◽  
Gene Expression Data ◽  
Recent Progress ◽  
Cancer Classification ◽  
Expression Data ◽  
Classification Methods ◽  
Healthcare Applications ◽  
Learning Methods

Data-driven model with predictive ability are important to be used in medical and healthcare. However, the most challenging task in predictive modeling is to construct a prediction model, which can be addressed using machine learning (ML) methods. The methods are used to learn and trained the model using a gene expression dataset without being programmed explicitly. Due to the vast amount of gene expression data, this task becomes complex and time consuming. This paper provides a recent review on recent progress in ML and deep learning (DL) for cancer classification, which has received increasing attention in bioinformatics and computational biology. The development of cancer classification methods based on ML and DL is mostly focused on this review. Although many methods have been applied to the cancer classification problem, recent progress shows that most of the successful techniques are those based on supervised and DL methods. In addition, the sources of the healthcare dataset are also described. The development of many machine learning methods for insight analysis in cancer classification has brought a lot of improvement in healthcare. Currently, it seems that there is highly demanded further development of efficient classification methods to address the expansion of healthcare applications.

scholarly journals Biological interpretation of deep neural network for phenotype prediction based on gene expression

2020 ◽  
Vol 21 (1) ◽  
Author(s):  
Blaise Hanczar ◽  
Farida Zehraoui ◽  
Tina Issa ◽  
Mathieu Arles
Keyword(s):  
Neural Network ◽  
Gene Expression ◽  
Deep Learning ◽  
Gene Expression Data ◽  
Deep Neural Network ◽  
Expression Profiles ◽  
Biological Knowledge ◽  
Expression Data ◽  
Phenotype Prediction ◽  
Biological Interpretation

Abstract Background The use of predictive gene signatures to assist clinical decision is becoming more and more important. Deep learning has a huge potential in the prediction of phenotype from gene expression profiles. However, neural networks are viewed as black boxes, where accurate predictions are provided without any explanation. The requirements for these models to become interpretable are increasing, especially in the medical field. Results We focus on explaining the predictions of a deep neural network model built from gene expression data. The most important neurons and genes influencing the predictions are identified and linked to biological knowledge. Our experiments on cancer prediction show that: (1) deep learning approach outperforms classical machine learning methods on large training sets; (2) our approach produces interpretations more coherent with biology than the state-of-the-art based approaches; (3) we can provide a comprehensive explanation of the predictions for biologists and physicians. Conclusion We propose an original approach for biological interpretation of deep learning models for phenotype prediction from gene expression data. Since the model can find relationships between the phenotype and gene expression, we may assume that there is a link between the identified genes and the phenotype. The interpretation can, therefore, lead to new biological hypotheses to be investigated by biologists.

scholarly journals Deep GONet: self-explainable deep neural network based on Gene Ontology for phenotype prediction from gene expression data

2021 ◽  
Vol 22 (S10) ◽  
Author(s):  
Victoria Bourgeais ◽  
Farida Zehraoui ◽  
Mohamed Ben Hamdoune ◽  
Blaise Hanczar
Keyword(s):  
Neural Network ◽  
Gene Expression ◽  
Gene Ontology ◽  
Deep Learning ◽  
Precision Medicine ◽  
Gene Expression Data ◽  
Biological Knowledge ◽  
Expression Data ◽  
Learning Models ◽  
Phenotype Prediction

Abstract Background With the rapid advancement of genomic sequencing techniques, massive production of gene expression data is becoming possible, which prompts the development of precision medicine. Deep learning is a promising approach for phenotype prediction (clinical diagnosis, prognosis, and drug response) based on gene expression profile. Existing deep learning models are usually considered as black-boxes that provide accurate predictions but are not interpretable. However, accuracy and interpretation are both essential for precision medicine. In addition, most models do not integrate the knowledge of the domain. Hence, making deep learning models interpretable for medical applications using prior biological knowledge is the main focus of this paper. Results In this paper, we propose a new self-explainable deep learning model, called Deep GONet, integrating the Gene Ontology into the hierarchical architecture of the neural network. This model is based on a fully-connected architecture constrained by the Gene Ontology annotations, such that each neuron represents a biological function. The experiments on cancer diagnosis datasets demonstrate that Deep GONet is both easily interpretable and highly performant to discriminate cancer and non-cancer samples. Conclusions Our model provides an explanation to its predictions by identifying the most important neurons and associating them with biological functions, making the model understandable for biologists and physicians.

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