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Autism Genetics: Strategies, Challenges, and Opportunities Brian J. O'Roak 1,2 and Matthew W. State 1,2,3 1 Department of Genetics; 2 Program on Neurogenetics; 3 Child Study Center, Yale University School of Medicine, New Haven, Connecticut LAY ABSTRACT While it has long been appreciated that genes contribute to pervasive developmental disorders, the specific risks underlying autism spectrum disorders (ASD) have only recently begun to be clarified. In this article, we address what is known about the genetic underpinnings of these syndromes, consider the obstacles facing gene discovery in the immediate future, and evaluate the most widely used methods employed to address these issues. We review the current literature, highlighting exciting recent findings that implicate both rare and common genetic variation in the genesis of autism. Finally we describe key technological advances that are transforming all areas of human genetics and medicine and consider both the opportunities as well as the challenges for autism research posed by these rapid changes. © 2008 INSAR/Wiley Periodicals, Inc . Article Citation: Autism Res 2008, 1: 4–17 . DOI: 10.1002/aur.3 The Potential Role for Emergence in Autism George M. Anderson Child Study Center, Yale University School of Medicine, 230 South Frontage Rd., New Haven,
Autism Research – Wiley
Published: Feb 1, 2008
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