Clinical Genetics and Mutations
This research improves the detection and interpretation of genetic variants associated with neurodevelopmental and genetic disorders, enhancing diagnostic accuracy and advancing our understanding of the molecular mechanisms underlying developmental conditions.
Comparing Bioinformatics Tools for Detecting ASD Genetic Variants
This study compared three bioinformatics tools for analyzing whole-exome sequencing data from 220 ASD family trios and identified 372 genetic variants across 168 individuals. The research found that combining multiple tools achieved superior diagnostic yield (20.5%) compared to single methods, demonstrating that integrating different variant interpretation approaches is more effective for detecting ASD-related genetic variants.
Conducted in collaboration with The Azrieli National Center for Autism and Neurodevelopment Research (ANCAN)
