Please use this identifier to cite or link to this item: http://hdl.handle.net/1959.13/807231

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Title
Application of serial analysis of gene expression to the study of human genetic disease
Author/Creator
Horan, Martin P.
Institution
The University of Newcastle. Faculty of Health, School of Biomedical Sciences and Pharmacy
Description
Sequence tag analysis using serial analysis of gene expression (SAGE) is a powerful strategy for the quantitative analysis of gene expression in human genetic disorders. SAGE facilitates the measurement of mRNA transcripts and generates a non-biased gene expression profile of normal and pathological disease tissue. In addition, the SAGE technique has the capacity of detecting the expression of novel transcripts allowing for the identification of previously uncharacterised genes, thus providing a unique advantage over the traditional microarray-based approach for expression profiling. The technique has been successful in providing pathological gene expression profiles in a number of common genetic disorders including diabetes, cardiovascular disease, Parkinson disease and Down syndrome. When combined with next generation sequencing platforms, SAGE has the potential to become a more powerful and sensitive technique making it more amenable for diagnostic use. This review will therefore discuss the application of SAGE to several common genetic disorders and will further evaluate its potential use in diagnosing human genetic disease.
Relation
Human Genetics Vol. 126, Issue 5, p. 605-614
Publisher Link
http://dx.doi.org/10.1007/s00439-009-0719-5
Date
2009
Publisher
Springer
Keyword(s)
human genetic diseases;  serial analysis of gene expression;  SAGE;  genes;  genetic disorders
Resource Type
journal article
Identifier
http://hdl.handle.net/1959.13/807231
Identifier
ISSN:0340-6717
Reviewed
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Subject
"Human Genetics"
 
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