Fig. 6 | Nature Communications

Fig. 6

From: De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes

Fig. 6The alternative text for this image may have been generated using AI.

Genetic and phenotypic landscapes for 2391 patients with congenital heart defects nodes in these two Bayesian networks correspond to genotypes, gene functions, tissue of expression, phenotypes, and potentially confounding variables such as ancestry and gender. Connections, or edges, between nodes denote conditional dependencies. The width of an edge is proportional to the relative strength of the dependency, calculated as the average pairwise fold change in risk. Blue denotes positive dependencies; red denotes negative dependencies. Relationships between multistate nodes (gender, ancestry and capture method) are shown in gray, because the nature of an association (positive or negative) can vary by state, e.g. male or female for gender. Unconnected nodes indicate conditional independence. See text for additional details. a Genotypes and gene functions. Relationships between recessive and de novo damaging genotypes, and gene lists. Cilia: SysCilia and cilia-related genes; HighHeart: genes highly expressed in the embryonic heart; TGF-βː TGF-β pathway associated genes; Notch: Notch-pathway associated genes; Chromatin: chromatin-modifying and related genes; Cytoskeletal: cytoskeleton-related genes. b Genotype classes and phenotypes. Relationships between proband phenotypes, and recessive and de novo damaging genotypes in cilia and chromatin-related genes, respectively. HTX: heterotaxy; CTD: conotruncal defects; LVO: left ventricular outflow defects; OTH: other phenotypes. Dotted lines denote mutually exclusive categories

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