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De novo tandem repeat mutations in individuals with autism

De novo mutations contribute to the genetic basis of autism spectrum disorder (ASD), but the role of tandem repeats (TR) arising de novo in probands with ASD is incompletely understood. Here, the authors have developed MonSTR for detecting de novo TR mutations in whole-genome sequencing data from parent–offspring trios and report that the burden of de novo TR mutations in probands with ASD is higher than in unaffected siblings. With another new method, SISTR, the authors determine that the de novo TR mutations that contribute most to ASD risk are under the strongest selection pressure.

Nature Volume 589 Issue 7841

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