Disease and phenotype gene set analysis of disease based gene expression in mouse and human.
Summary of "Disease and phenotype gene set analysis of disease based gene expression in mouse and human."
The genetic contributions to common disease and complex disease phenotypes are pleiotropic, multifactorial, and combinatorial. Gene set analysis is a computational approach used in the analysis of microarray data to rapidly query gene combinations and multifactorial processes. Here we use novel gene sets based on population based human genetic associations in common human disease or experimental genetic mouse models to analyze disease related microarray studies. We developed a web based analysis tool which use these novel disease and phenotype related gene sets to analyze microarray based gene expression data. These gene sets show disease and phenotype specificity in a species specific and cross species fashion. In this way, we integrate population based common human disease genetics, mouse genetically determined phenotypes, and disease or phenotype structured ontologies, with gene expression studies relevant to human disease. This may aid in the translation of large scale high-throughput datasets into the context of clinically relevant disease phenotypes.
Affiliation
National Institute on Aging/ NIH.
Journal Details
This article was published in the following journal.
Name: Physiological genomics
ISSN: 1531-2267
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/20682848
- DOI: http://dx.doi.org/10.1152/physiolgenomics.00008.2010
Medical and Biotech [MESH] Definitions
Molecular Diagnostic Techniques
MOLECULAR BIOLOGY techniques used in the diagnosis of disease. Included are such techniques as IN SITU HYBRIDIZATION of chromosomes for CYTOGENETIC ANALYSIS; OLIGONUCLEOTIDE ARRAY SEQUENCE ANALYSIS of gene expression patterns in disease states; identification of pathogenic organisms by analysis of species specific DNA sequences; and detection of mutations with POLYMERASE CHAIN REACTION.
Genetic Association Studies
The analysis of a sequence such as a region of a chromosome, a haplotype, a gene, or an allele for its involvement in controlling the phenotype of a specific trait, metabolic pathway, or disease.
Gene Dosage
The number of copies of a given gene present in the cell of an organism. An increase in gene dosage (by GENE DUPLICATION for example) can result in higher levels of gene product formation. GENE DOSAGE COMPENSATION mechanisms result in adjustments to the level GENE EXPRESSION when there are changes or differences in gene dosage.
Gene Therapy
The introduction of new genes into cells for the purpose of treating disease by restoring or adding gene expression. Techniques include insertion of retroviral vectors, transfection, homologous recombination, and injection of new genes into the nuclei of single cell embryos. The entire gene therapy process may consist of multiple steps. The new genes may be introduced into proliferating cells in vivo (e.g., bone marrow) or in vitro (e.g., fibroblast cultures) and the modified cells transferred to the site where the gene expression is required. Gene therapy may be particularly useful for treating enzyme deficiency diseases, hemoglobinopathies, and leukemias and may also prove useful in restoring drug sensitivity, particularly for leukemia.
Gene Knock-in Techniques
Techniques used to add in exogenous gene sequence such as mutated genes; REPORTER GENES, to study mechanisms of gene expression; or regulatory control sequences, to study effects of temporal changes to GENE EXPRESSION.
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