What is AutoCaSc?

The AutoCaSc tool systematically evaluates the plausibility of variants in genes not yet associated with human disease ("candidate genes") to be associated with neurodevelopmental disorders (NDDs). Such variants are typically identified through genome wide screening approaches in individuals NDDs but without a clear diagnostic variant. AutoCaSc accounts for variant-specific parameters (conservation, "in silico" predictions), gene specific parameters (gene constraint, expression pattern, protein interactions), segregation of the variant and the overall interplay between these parameters.