Somatic mosaicism and autism spectrum disorder

syn21438207

Created By Mette Peters Mette

title: 1/2-Somatic mosaicism and autism spectrum disorder
abstract: We hypothesize that somatic mutations play a significant role in ASD due to; a high rate of de novo mutations, somatic mutations in known genes, and in brain disorders that overlap ASD features. The technical and resource limitations that had prevented a systematic study of the role of somatic mutations have now been overcome thanks to NGS and available ASD specimens. In this collaborative UO1 we use complementary approaches to identify and functionally characterize ASD somatic brain mutations
grantNumber: U01MH106883
institution: Boston Children's Hospital
institutions: Boston Children's Hospital Harvard University
projectTitle: 1/2-Somatic mosaicism and autism spectrum disorder
ndaCollection: [2962](https://nda.nih.gov/edit_collection.html?id=2962)
primaryInvestigator: Christopher Walsh, Peter Park
primaryInvestigators: Christopher Walsh Peter Park

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