@article {An042218, author = {Joon Yong An and Charles Claudianos}, title = {Genetic heterogeneity in autism: from single gene to a pathway perspective}, elocation-id = {042218}, year = {2016}, doi = {10.1101/042218}, publisher = {Cold Spring Harbor Laboratory}, abstract = {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.}, URL = {https://www.biorxiv.org/content/early/2016/03/06/042218}, eprint = {https://www.biorxiv.org/content/early/2016/03/06/042218.full.pdf}, journal = {bioRxiv} }