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. 2020 Aug 14;1(1):100008. doi: 10.1016/j.xhgg.2020.100008

Figure 4.

Figure 4

Inherited variants potentially contributing to etiology of CDH probands

(A) Compound heterozygous (boxed in dark purple) or homozygous (boxed in light purple) inherited variants highly ranked as damaging and rare by VAAST (with pseudogenes, highly mutable genes, and genes expressed at low levels in PPFs filtered out). Genes in bold and in larger font harbor variants that are ranked as more damaging (see Table S4 and its legend).

(B) Candidate genes with inherited variants overlaid on all genes expressed in mouse PPFs at E12.5. RNA-seq reads normalized using TPM. Black line denotes TPM = 0, and red dashed line denotes TPM = 10.