TY - JOUR T1 - Genetic heterogeneity in autism: from single gene to a pathway perspective JF - bioRxiv DO - 10.1101/042218 SP - 042218 AU - Joon Yong An AU - Charles Claudianos Y1 - 2016/01/01 UR - http://biorxiv.org/content/early/2016/03/06/042218.abstract N2 - 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. ER -