Abstract
Abstract
Background: The genetic contributions to human common disorders and mouse genetic
models of disease are complex and often overlapping. In common human diseases, unlike
classical Mendelian disorders, genetic factors generally have small effect sizes, are
multifactorial, and are highly pleiotropic. Likewise, mouse genetic models of disease often
have pleiotropic and overlapping phenotypes. Moreover, phenotypic descriptions in the
literature in both human and mouse are often poorly characterized and difficult to compare
directly.
Methods: In this report, human genetic association results from the literature are
summarized with regard to replication, disease phenotype, and gene specific results; and
organized in the context of a systematic disease ontology. Similarly summarized mouse
genetic disease models are organized within the Mammalian Phenotype ontology. Human
and mouse disease and phenotype based gene sets are identified. These disease gene sets
are then compared individually and in large groups through dendrogram analysis and
hierarchical clustering analysis.
Results: Human disease and mouse phenotype gene sets are shown to group into disease
and phenotypically relevant groups at both a coarse and fine level based on gene sharing.
Conclusion: This analysis provides a systematic and global perspective on the genetics of
common human disease as compared to itself and in the context of mouse genetic models of
disease.
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