Decomposition of phenotypic heterogeneity in autism reveals distinct and coherent genetic programs
Aviya Litman, Natalie Sauerwald, LeeAnne Green Snyder, Jennifer H. Foss‐Feig, Christopher Y. Park, Yun Hao, Ilan Dinstein, Chandra L. Theesfeld, Olga G. Troyanskaya
Mixture modeling of 239 phenotype features in 5,392 SPARK autistic children defines four replicable classes carrying distinct common and rare variant signatures and developmental gene-timing patterns.
Nature Genetics · Jul 1, 2025Peer-reviewedGenetic & Genomic Medicine✦ In-depth digest