Dataset Information

Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network.

ABSTRACT: In this article, we propose a new approach to analyze large genomics data. We considered individual genetic variants as pixels in an image and transformed a collection of variants into an artificial image object (AIO), which could be classified as a regular image by CNN algorithms. Using schizophrenia as a case study, we demonstrate the principles and their applications with 3 datasets. With 4,096 SNVs, the CNN models achieved an accuracy of 0.678 ± 0.007 and an AUC of 0.738 ± 0.008 for the diagnosis phenotype. With 44,100 SNVs, the models achieved class-specific accuracies of 0.806 ± 0.032 and 0.820 ± 0.049, and AUCs of 0.930 ± 0.017 and 0.867 ± 0.040 for the bottom and top classes stratified by the patient's polygenic risk scores. These results suggest that, once transformed to images, large genomics data can be analyzed effectively with image classification algorithms.

SUBMITTER: Chen X

PROVIDER: S-EPMC8369164 | biostudies-literature | 2021 Aug

REPOSITORIES: biostudies-literature

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Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network.

Chen Xiangning X Chen Daniel G DG Zhao Zhongming Z Zhan Justin J Ji Changrong C Chen Jingchun J

Patterns (New York, N.Y.) 20210630 8

In this article, we propose a new approach to analyze large genomics data. We considered individual genetic variants as pixels in an image and transformed a collection of variants into an artificial image object (AIO), which could be classified as a regular image by CNN algorithms. Using schizophrenia as a case study, we demonstrate the principles and their applications with 3 datasets. With 4,096 SNVs, the CNN models achieved an accuracy of 0.678 ± 0.007 and an AUC of 0.738 ± 0.008 for the diag ...[more]

PMID: 34430925

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Project description:BackgroundTranscriptome sequencing has been broadly available in clinical studies. However, it remains a challenge to utilize these data effectively for clinical applications due to the high dimension of the data and the highly correlated expression between individual genes.MethodsWe proposed a method to transform RNA sequencing data into artificial image objects (AIOs) and applied convolutional neural network (CNN) algorithms to classify these AIOs. With the AIO technique, we considered each gene as a pixel in an image and its expression level as pixel intensity. Using the GSE96058 (n = 2976), GSE81538 (n = 405), and GSE163882 (n = 222) datasets, we created AIOs for the subjects and designed CNN models to classify biomarker Ki67 and Nottingham histologic grade (NHG).ResultsWith fivefold cross-validation, we accomplished a classification accuracy and AUC of 0.821 ± 0.023 and 0.891 ± 0.021 for Ki67 status. For NHG, the weighted average of categorical accuracy was 0.820 ± 0.012, and the weighted average of AUC was 0.931 ± 0.006. With GSE96058 as training data and GSE81538 as testing data, the accuracy and AUC for Ki67 were 0.826 ± 0.037 and 0.883 ± 0.016, and that for NHG were 0.764 ± 0.052 and 0.882 ± 0.012, respectively. These results were 10% better than the results reported in the original studies. For Ki67, the calls generated from our models had a better power for prediction of survival as compared to the calls from trained pathologists in survival analyses.ConclusionsWe demonstrated that RNA sequencing data could be transformed into AIOs and be used to classify Ki67 status and NHG with CNN algorithms. The AIO method could handle high-dimensional data with highly correlated variables, and there was no need for variable selection. With the AIO technique, a data-driven, consistent, and automation-ready model could be developed to classify biomarkers with RNA sequencing data and provide more efficient care for cancer patients.

Dataset Information

Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network.

Publications

Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network.

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