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The functional annotation of mammalian genomes: The challenge of phenotyping.
Annu. Rev. Genet. 43, 305-333 (2009)
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.
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Publication type
Article: Journal article
Document type
Scientific Article
Keywords
mouse genetics; mutagenesis; phenotype; bioinformatics; ontologies
Language
english
Publication Year
2009
HGF-reported in Year
0
ISSN (print) / ISBN
0066-4197
e-ISSN
1545-2948
Journal
Annual Review of Genetics
Quellenangaben
Volume: 43,
Pages: 305-333
Publisher
Annual Reviews
Publishing Place
USA
Reviewing status
Peer reviewed
Institute(s)
Institute of Developmental Genetics (IDG)
POF-Topic(s)
30204 - Cell Programming and Repair
Research field(s)
Genetics and Epidemiology
PSP Element(s)
G-500500-001
PubMed ID
19689210
Scopus ID
73349135989
Erfassungsdatum
2009-12-31