Family-based study of Autism Spectrum Disorders

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• Maja Bućan, University of Pennsylvania
• Monday 22 March 2021, 15:30-16:30
• https://us02web.zoom.us/j/85130861934?pwd=c1l1czdNSFVaUzdtRDRPSlU3Q0VmZz09.

If you have a question about this talk, please contact Elizabeth Weir.

My talk will focus on our recent insights into genetic architecture of autism traits in a collection of families of subjects with Autism Spectrum Disorder (ASD) without intellectual disability (ID). Deep phenotyping combined with Whole Genome Sequence of ASD families revealed a striking level of clustering of deleterious variants in known ASD -risk genes and genes implicated in synaptic function. I will present a compelling evidence for a joint contribution of the ASD polygenic risk, rare variant burden, and structural variation to the risk for both ASD and sleep disturbances, a common ASD associated co-morbidity.

This talk is part of the ARClub Talks series.

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