Article

Evaluating a Standard Benchmark for Gene Prioritization: The InheriNext® Algorithm’s Integration of Genomic and Phenotypic Information

2025-02-28

Abstract excerpt

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 healthy individuals to serve as genomic backgrounds. Performance was evaluated across diverse te...

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Literature Corpus work: 230ae181-4b23-56de-be81-187733a1b4c2
DOI: 10.1101/2025.02.25.640147

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