Genome-wide rare variant score associates with morphological subtypes of autism spectrum disorder.

When we excluded the probands with high impact variants (i.e., deletions or LoFs impacting LoF intolerant genes or missense variants with the missense badness, PolyPhen-2, and constraint 28 (MPC) score > 2) in 183 ASD genes 26 , those with dysmorphic ASD still had higher average GRVSs than those with nondysmorphic ASD with a trend toward significance ( P = 0.07, one-sided Wilcoxon rank-sum test).

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