Figure 1.

LoF and Missense De Novo Mutations Are Enriched in Individuals with Orofacial Clefts

(A) Distribution of DNMs per trio genome-wide.

(B) Distribution of coding DNMs per trio.

(C) Distribution of rare, coding DNMs by variant class for all OFC-affected trios. DNMs were further divided by MPC score (missense) and gene pLI score (LoF) as a measure of potential deleteriousness.

(D) Enrichment of DNMs ± two standard errors by variant class for all OFCs, probands with CP only, probands with CL/P, male probands with CL/P, and female probands with CL/P. The comparison of trios only affected by CP by sex of the proband was not presented because of small sample sizes.