Fig. 1: Results of rare variant association analyses using the burden test. | Translational Psychiatry

Fig. 1: Results of rare variant association analyses using the burden test.

From: Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes

Fig. 1

A The primary filtering step used in this study. After sample and genotype quality checking, we picked LoF and D-Mis variants with MAF ≤ 5.0 × 10−3 in this cohort and ≤ 5.0 × 10−4 in the public databases for the subsequent case-control burden analysis. During the filtering step, 8 ASD and 3 HC samples were excluded (Fig. S1). B Burden tests were performed under each of the following conditions: LoF variants, LoF variants in genes with pLI score > 0.5, LoF variants in genes with pLI score > 0.9, D-mis variants, and D-mis + LoF variants. Although we did not detect any significant associations for overall LoF variants, LoF variants in genes with pLI > 0.5 were enriched in ASD cases. ** Indicates a nominal significant association (uncorrected P-value < 0.01).

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