Family-based study of Autism Spectrum Disorders – Maja Bućan, University of Pennsylvania

March 22, 2021 @ 3:30 pm – 4:30 pm
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.

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