Joint analysis of de novo mutations from autism spectrum disorder, schizophrenia, congenital heart disease, and other developmental disorders improves detection power and implicates shared molecular pathways and CNS processes.

Abstract excerpt

Rare exonic variant studies have previously implicated overlapping risk genes and pathways for autism spectrum disorder (ASD), severe, undiagnosed developmental disorders (UDDs), intellectual disability (ID), congenital heart disease (CHD), and schizophrenia (SCZ). Here, we use a two-trait Bayesian integrative analysis approach on 43 287 ASD, UDD/ID, CHD, and SCZ case trios to increase statistical power for gene...

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