Next up in the #ASHG21 plenary session is Jonathan Sebat (@sebatlab) covering WGS of #Autism combining common and rare variants.
#ASHG21 @sebatlab: Found more de novo variants in cases than controls, rare inherited variants overtransmitted to cases, polygenic scores overtransmitted to cases. As such, all 3 categories are associated with #Autism risk.
#ASHG21 @sebatlab: created rare variant and common variant risk scores and both were associated with #autism status.
#ASHG21 @sebatlab: Found females with autism have a higher polygenic score (both common and rare) than males with autism. However, this same pattern was also observed with controls.
Found inverse correlation between rare and common variant risk.
Found inverse correlation between rare and common variant risk.
#ASHG21 @sebatlab: Both de novo variants and polygenic scores are associated with social deficits and repetitive behavior.
Also DNVs strongly associated with motor function but not polygenic risk.
Also DNVs strongly associated with motor function but not polygenic risk.
#ASHG21 @sebatlab: All genetic factors associated with parental age.
PGS of educational attainment positively correlated with parental age. But educational attainment was negatively correlated with effects on social deficits.
PGS of educational attainment positively correlated with parental age. But educational attainment was negatively correlated with effects on social deficits.
#ASHG21 @sebatlab: excellent use of polygenic TDT by @danweiner92, @EmilieWigdor, @elisebrobinson in this presentation : )
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