Avtor/Urednik		Espinosa, Octavio; Hancock, John M.
Naslov		A gene-phenotype network for the laboratory mouse and its implications for systematic phenotyping
Tip		članek
Vol. in št.		Letnik 6, št. 5
Leto izdaje		2011
Obseg		str. 1-16
ISSN		1932-6203 - PloS one
Jezik		eng
Abstrakt		The laboratory mouse is the pre-eminent model organism for the dissection of human disease pathways. With the advent ofa comprehensive panel of gene knockouts, projects to characterise the phenotypes of all knockout lines are being initiated.The range of genotype-phenotype associations can be represented using the Mammalian Phenotype ontology. Usingpublicly available data annotated with this ontology we have constructed gene and phenotype networks representingthese associations. These networks show a scale-free, hierarchical and modular character and community structure. Theyalso exhibit enrichment for gene coexpression, protein-protein interactions and Gene Ontology annotation similarity. Closeassociation between gene communities and some high-level ontology terms suggests that systematic phenotyping canprovide a direct insight into underlying pathways. However some phenotypes are distributed more diffusely across genenetworks, likely reflecting the pleiotropic roles of many genes. Phenotype communities show a many-to-many relationshipto human disease communities, but stronger overlap at more granular levels of description. This may suggest thatsystematic phenotyping projects should aim for high granularity annotations to maximise their relevance to human disease.
Proste vsebinske oznake		fenotipizacija gensko-fenotipska mreža ontologija phenotyping gene-phenotype network ontology