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Mol Biotechnol. 2009 Mar;41(3):296-306. doi: 10.1007/s12033-008-9134-8. Epub 2008 Dec 20.

Role of in silico tools in gene discovery.

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Department of Molecular & Clinical Genetics, Royal Prince Alfred Hospital and Central Clinical School, University of Sydney, G48A, Medical Foundation Building (K25), 92-94 Parramatta Road, Camperdown, NSW 2050, Australia.


Common complex diseases remain a major health challenge and involve the interaction of multiple genes and environmental factors. Discovering the relevant genes is difficult although it is known that disease risk can originate from the variation of an individual's genome. Application of in silico tools can significantly improve the detection of genes and variation. Data mining and automated tracking of new knowledge facilitate locus mapping. At the gene search stage, in silico prioritization of candidate genes plays an indispensable role in dealing with linked or associated loci. In silico analysis can also differentiate subtle consequences of coding DNA variants and remains the major tool to predict potential effects of non-coding DNA variants on gene transcription and/or pre-mRNA splicing.

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