AutScore- An integrative scoring approach for prioritization of ultra-rare autism spectrum disorder candidate variants from whole exome sequencing data
Apurba Shil, Noa Arava, Noam Levi, Liron Levine, Hava M. Golan, Gal Meiri, Analya Michaelovski, Yair Tsadaka, Adi Avniel Aran, Idan Menashe
AutScore prioritizes ultra-rare ASD candidate variants from WES data by integrating pathogenicity, clinical relevance, and inheritance patterns, outperforming existing methods in detection accuracy.
medRxiv · Jan 24, 2024 · PreprintGenetic & Genomic Medicine