Genes and Pathways Implicated in Tetralogy of Fallot Revealed by Ultra-Rare Variant Burden Analysis in 231 Genome Sequences.

This represents highly significant enrichment compared to such variants from gnomAD v2.1 (23 of 958 variants; one-sided Fisher’s Exact Test p -value = 3.15 × 10 –5 , odds ratio = 39.8).

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BCAR1 was implicated by structural variation (thus not analyzed in the current study), VEGFA does not have a defined de novo mutation probability in denovolyzeR, FGD5 and PRDM1 are not associated to any VEGF-related gene-sets among the GO/pathways gene-sets used for this analysis, and IQGAP1 was present only in a VEGF-related gene-set not containing FLT4 and thus did not achieve significance.

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For ultra-rare missense variants, a large cluster of MPO gene-sets was significant (FDR = 0.056) and two GO/pathways clusters were borderline significant (FDR < 25%).

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We additionally identified other genes that were only nominally significant, but had suggestive functional or phenotypic evidence and could achieve genome-wide significance in a larger cohort.

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