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The functional annotation of mammalian genomes: the challenge of phenotyping

Item Type:Review
Title:The functional annotation of mammalian genomes: the challenge of phenotyping
Creators Name:Brown, S.D.M., Wurst, W., Kühn, R. and Hancock, J.M.
Abstract:The mouse is central to the goal of establishing a comprehensive functional annotation of the mammalian genome that will help elucidate various human disease genes and pathways. The mouse offers a unique combination of attributes, including an extensive genetic toolkit that underpins the creation and analysis of models of human disease. An international effort to generate mutations for every gene in the mouse genome is a first and essential step in this endeavor. However, the greater challenge will be the determination of the phenotype of every mutant. Large-scale phenotyping for genome-wide functional annotation presents numerous scientific, infrastructural, logistical, and informatics challenges. These include the use of standardized approaches to phenotyping procedures for the population of unified databases with comparable data sets. The ultimate goal is a comprehensive database of molecular interventions that allows us to create a framework for biological systems analysis in the mouse on which human biology and disease networks can be revealed.
Keywords:Mouse Genetics, Mutagenesis, Phenotype, Bioinformatics, Ontologies, Animals, Mice
Source:Annual Review of Genetics
Series Name:Annual Review of Genetics
Publisher:Annual Reviews
Page Range:305-333
Date:December 2009
Official Publication:https://doi.org/10.1146/annurev-genet-102108-134143
PubMed:View item in PubMed

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