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...