Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs
Litman A, Sauerwald N, Green Snyder L, Foss-Feig J, Park C, Hao Y, Dinstein I, Theesfeld C, Troyanskaya O. Decomposition of phenotypic heterogeneity in autism reveals underlying genetic programs. Nature Genetics 2025, 57: 1611-1619. PMID: 40634707, PMCID: PMC12283356, DOI: 10.1038/s41588-025-02224-z.Peer-Reviewed Original ResearchConceptsGenetic complexityPhenotypic complexityClinically relevant classesPhenotypic dataPhenotypic heterogeneityDe novoMolecular programsClass-specific differencesMechanistic hypothesesDysregulation patternsDevelopmental timeGenetic programmingComplexity of autismIndependent cohortClinical outcome differencesGenesMutationsGeneticsTraitsClinical outcomesClinical manifestationsPathwayMixture model approachInheritanceBiology
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