%0 Journal Article %A Joon Yong An %A Charles Claudianos %T Genetic heterogeneity in autism: from single gene to a pathway perspective %D 2016 %R 10.1101/042218 %J bioRxiv %P 042218 %X The extreme genetic heterogeneity of autism spectrum disorder (ASD) represents a major challenge. Recent advances in genetic screening and systems biology approaches have extended our knowledge of the genetic etiology of ASD. In this review, we discuss the paradigm shift from a single gene causation model to pathway perturbation model as a guide to better understand the pathophysiology of ASD. We discuss recent genetic findings obtained through next-generation sequencing (NGS) and examine various integrative analyses using systems biology and complex networks approaches that identify convergent patterns of genetic elements associated with ASD. This review provides a summary of the genetic findings of family-based genome screening studies. %U https://www.biorxiv.org/content/biorxiv/early/2016/03/03/042218.full.pdf