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Author

Randy Rutz

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Open access 2026

Integrating Genomic and Phenotypic Data for Gene Prioritization: AI Performance Assessment of the InheriNext® Algorithm

This study presents a comprehensive benchmark analysis of InheriNext®, a domain-specific, AI-powered tool designed for phenotype-driven pathogenic variant prioritization. For this study, 7,244 whole exome test cases were generated using phenotype and genotype data from Phenopackets, along with pools of variants from he...

Justin Chang, Kuan Li, Yu-Shen Tsai et al. · 0 citations

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