Mehmet Ali Ergün

The paper calibrates AlphaGenome Variant Impact (AVI) and SpliceAI2 scores for variant classification, showing their performance across different variant classes and comparison methods.

HECTOR is a web-based tool that automates BRCA1/BRCA2 variant classification according to ENIGMA specifications, achieving high concordance with expert curation and resolving many variants classified as uncertain or conflicting.

This study evaluates RNA-seq's diagnostic utility in three patient groups with non-diagnostic exome sequencing, finding higher yields in groups with candidate variants.