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bioRxiv · 10.1101/042218

Genetic heterogeneity in autism: from single gene to a pathway perspective

Joon Yong An·Charles Claudianos
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Abstract

AbstractThe 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.

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Joon Yong An, Charles Claudianos. 2016-03-03. Genetic heterogeneity in autism: from single gene to a pathway perspective. https://doi.org/10.1101/042218

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