Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs.

ABSTRACT: Unraveling the phenotypic and genetic complexity of autism is extremely challenging yet critical for understanding the biology, inheritance, trajectory, and clinical manifestations of the many forms of the condition. Here, we leveraged broad phenotypic data from a large cohort with matched genetics to characterize classes of autism and their patterns of core, associated, and co-occurring traits, ultimately demonstrating that phenotypic patterns are associated with distinct genetic and molecular programs. We used a generative mixture modeling approach to identify robust, clinically-relevant classes of autism which we validate and replicate in a large independent cohort. We link the phenotypic findings to distinct patterns of de novo and inherited variation which emerge from the decon

SUBMITTER: Litman A 

PROVIDER: S-EPMC11343255 | biostudies-literature | 2024 Aug

REPOSITORIES: biostudies-literature