De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Nature. 2012 May 10; 485(7397):237-41
Gail Herman
24 May 2012
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New Finding, Technical Advance
This article is one of three published back-to-back (see also {1,2} and my F1000 evaluation of the latter {3}) that use exome sequencing to identify de novo likely pathogenic mutations in individuals with sporadic idiopathic autism.
The authors here studied discordant sibling pairs (one affected and one unaffected) and their parents...
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