Systematic Curation of Genetic Variants Associated with Autism Spectrum Disorder Using the EAGLE Framework
This study applied the Evaluation of Autism Gene Link Evidence (EAGLE) framework to systematically curate 222 genes associated with neurodevelopmental disorders, identifying 78 with definitive evidence for autism association, 43 with moderate evidence, and 99 with limited evidence. The analysis revealed differential expression and enrichment patterns at brain and cellular levels, establishing biological relevance for distinguishing autism-specific genetic associations from broader neurodevelopmental disorder phenotypes.
