RT Journal Article
SR Electronic
T1 Genetic heterogeneity in autism: from single gene to a pathway perspective
JF bioRxiv
FD Cold Spring Harbor Laboratory
SP 042218
DO 10.1101/042218
A1 Joon Yong An
A1 Charles Claudianos
YR 2016
UL http://biorxiv.org/content/early/2016/03/06/042218.abstract
AB 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.