Development of an automated system for the detection of genotype in polypoidal choroidal vasculopathy using retinal image phenotype.

Computer Methods and Programs in Biomedicine(2020)

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摘要
•PCV is a retinal disorder characterized by the presence of aneurismal polypoidal lesions in the choroidal vasculature.•Single nucleotide polymorphism (SNP) is a common genetic variant associated with the disease.•This study investigated the association of the HERPUD1 (rs2217332) gene with PCV in the Indian population•An automated system for genotype and phenotype correlation using fundus images and machine learning methods is proposed•Textural features coupled with SVM classifier is used•HERPUD1 rs2217332 SNP is significantly associated in PCV patients compared to control (P = 0.0296, odds ratio [OD] = 2.297, 95% confidence interval [CI] = 1.087–4.856) in Indian population.•High F1 and precision values of 85.71%, 86.84% and 85.71%, 93.75% and were achieved in the pre and post-treatment phases respectively.•Based on our analysis it may be possible to predict the genotype and disease status of PCV patients using fundus images and machine learning algorithm.
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关键词
Polypoidal choroidal vasculopathy,Single nucleotide polymorphism,Fundus images,Machine learning technique,t-test,Adaptive synthetic sampling,Leave-one-out validation,Texture features,Ensemble classifier
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