Autism genetics: opportunities and challenges for clinical translation
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Publication date
2017-06
Authors
Vorstman, Jacob A S
Parr, Jeremy R
Moreno-De-Luca, Daniel
Anney, Richard J L
Nurnberger, John I
Hallmayer, Joachim F
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Supervisors
Document Type
Article
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taverne
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.
Keywords
Autistic Disorder, Genetic Predisposition to Disease, Genotyping Techniques, Humans, Taverne, Molecular Biology, Genetics, Genetics(clinical), Journal Article, Review
Citation
Vorstman, J A S, Parr, J R, Moreno-De-Luca, D, Anney, R J L, Nurnberger, J I & Hallmayer, J F 2017, 'Autism genetics : opportunities and challenges for clinical translation', Nature Reviews. Genetics, vol. 18, no. 6, pp. 362-376. https://doi.org/10.1038/nrg.2017.4