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Advanced filters: Author: Clif Duhn Clear advanced filters

Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD

Here, the authors clarify the architecture of genetic risk on chromosome X in three male-biased psychiatric disorders. Leveraging this information they identify an exome-wide significant autism risk gene, MAGEC3, and provide a path forward for future gene discovery on this chromosome.

Sheng Wang
Belinda Wang
A. Jeremy Willsey
ResearchOpen Access06 Dec 2023
Nature Communications

Volume: 14, P: 1-18
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

This study presents a framework to evaluate rare and de novo variation from whole-genome sequencing (WGS). The work suggests that robust results from WGS studies will require large cohorts and strategies that consider the substantial multiple-testing burden.

Donna M. Werling
Harrison Brand
Stephan J. Sanders
Research26 Apr 2018
Nature Genetics

Volume: 50, P: 727-736

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Rare X-linked variants carry predominantly male risk in autism, Tourette syndrome, and ADHD

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

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