Evaluating a Standard Benchmark for Gene Prioritization: The InheriNext(R) Algorithm's Integration of Genomic and Phenotypic Information
Ju-Yuan Chang, Kuan-Tsung Li, Yu-Shen Tsai, Michael Kubal, Aaron M. Hamby, Naomi Thomson, Jonathan Sheridan, Shiloh Barfield, Randy Rutz, Frank Shih-Chang Ong, Ramon M. Felciano, Scott Kahn, Shao‐Min Wu
This study benchmarks the InheriNext(R) algorithm for pathogenic variant prioritization using 7,244 whole exome test cases, showing 98.6% sensitivity and consistent performance across diverse scenarios.
bioRxiv · Feb 25, 2025 · PreprintGenomics