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Review
. 2017 Jun;18(6):362-376.
doi: 10.1038/nrg.2017.4. Epub 2017 Mar 6.

Autism genetics: opportunities and challenges for clinical translation

Jacob A S Vorstman  1 , Jeremy R Parr  2 , Daniel Moreno-De-Luca  3 , Richard J L Anney  4 , John I Nurnberger Jr  5   6 , Joachim F Hallmayer  7
Affiliations
Free article
Review

Autism genetics: opportunities and challenges for clinical translation

Jacob A S Vorstman et al. Nat Rev Genet. 2017 Jun.
Free article

Abstract

Genetic studies have revealed the involvement of hundreds of gene variants in autism. Their risk effects are highly variable, and they are frequently related to other conditions besides autism. However, many different variants converge on common biological pathways. These findings indicate that aetiological heterogeneity, variable penetrance and genetic pleiotropy are pervasive characteristics of autism genetics. Although this advancing insight should improve clinical care, at present there is a substantial discrepancy between research knowledge and its clinical application. In this Review, we discuss the current challenges and opportunities for the translation of autism genetics knowledge into clinical practice.

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References

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