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SUMMARY:Family-based study of Autism Spectrum Disorders - Maja Bućan\, Un
 iversity of Pennsylvania
DTSTART:20210322T153000Z
DTEND:20210322T163000Z
UID:TALK157702@talks.cam.ac.uk
CONTACT:Elizabeth Weir
DESCRIPTION:My talk will focus on our recent insights into genetic archite
 cture of autism traits in a collection of families of subjects with Autism
  Spectrum Disorder (ASD) without intellectual disability (ID).  Deep pheno
 typing combined with Whole Genome Sequence of ASD families revealed a stri
 king level of clustering of deleterious variants in known ASD-risk genes a
 nd genes implicated in synaptic function.  I will present a compelling evi
 dence for a joint contribution of the ASD polygenic risk\, rare variant bu
 rden\, and structural variation to the risk for both ASD and sleep disturb
 ances\, a common ASD associated co-morbidity.
LOCATION:https://us02web.zoom.us/j/85130861934?pwd=c1l1czdNSFVaUzdtRDRPSlU
 3Q0VmZz09
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