Figure 6.

Identification of patient variants that modulate enhancer activity using MPRA with synthesized sequences (sMPRA)

(A) Schematic of sMPRA.

(B) Flowchart showing the number of rare, recessive variants that pass each filter.

(C) Volcano plot of fold change of enhancer activity and adjusted p value for each variant-containing sequence compared to its matched control sequence. Significant patient variants are labeled and in color, significant control variants are in dark gray, and all other variants are in light gray. Statistical significance was assessed with the Wilcoxon test at 5% FDR. Full details of statistical analyses are in the STAR Methods.