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Fig. 1 | BMC Bioinformatics

Fig. 1

From: iMEGES: integrated mental-disorder GEnome score by deep neural network for prioritizing the susceptibility genes for mental disorders in personal genomes

Fig. 1

Schematic overview of iMEGES. The input are whole genome variants from patients with mental disorders, in ANNOVAR input format, BED format or VCF format. In variant prioritization of iMEGES, iMEGES extracts predicted scores from various predictors for non-coding variants, the GNOMAD frequency, known brain eQTLs scores, enhancer and promoter regions of the brain, and then trains a deep learning algorithm for generating variant score named as ncDeepBrain. In gene prioritization, iMEGES integrates the variant score from the first step, general gene scores (RVIS, GTEx and haploinsufficiency scores), and disease-specific scores such as Phenolyzer, CNVs and de novo mutations scores to generate iMEGES gene prioritization score for mental disorders

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BMC Bioinformatics

ISSN: 1471-2105

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