Genetic & Genomic MedicinemedRxivPreprint
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…·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.
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