Skip to main content
. Author manuscript; available in PMC: 2018 Jun 1.
Published in final edited form as: Hum Genet. 2017 Mar 16;136(6):679–691. doi: 10.1007/s00439-017-1774-y

Fig 2. Diaphragm and heart expression of genes with de novo variants.

Fig 2

(a) LGD and D-mis variants (red) in complex CDH patients are plotted according to gene ranking by expression levels in the developing diaphragm (x axis) and in the developing heart (y axis) and compared to other variants in the same cohort (grey). (b) Complex CDH patients have an increased burden of LGD and D-mis variants in the first quartile of diaphragm expression relative to control trios. Bars depict the fold enrichment for each class of de novo sequence variant in the Boston and DHREAMS cohorts. Asterisks indicate p-values of 0.0003.