Published on Sep. 12, 2017

Autism is characterized by a complex set of behavioral, social, and cognitive deficits. Extensive variation of these phenotypes suggests the existence of autism subtypes that likely have distinct genetic etiologies. The lack of unifying genotypes common to autism patients supports this subtype structure, and suggests that the onset of autism is due to combinations of genetic factors. The ability to precisely diagnose autism subtypes using genetic markers would lead to earlier and more specific treatments and improve outcomes, stressing the need for research which increases our understanding of the genetic etiologies of autism subtypes. In this research, we identify combinations of genetic factors that are associated with groups of autism patients with unifying behavioral profiles, yielding candidate genes to be investigated for their role in the development of these potential autism subtypes.  Utilizing methods that combine bioinformatics strategies with data mining practices, we pursue three goals: the discovery of genetic combinations associated to a disease subgroup, the exploration of disease subgroups to find potential subtypes, and the analysis of relationships between genes and subgroups to identify relevant functional interactions.