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Role of In Silico Tools in Gene Discovery

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Abstract

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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Acknowledgments

The author thanks Professor Ronald J. Trent and Dr Julia M. Morahan for their helpful discussion and comments on the manuscript. This work was partially supported by the Australian Research Council Discovery Grant DP0452019.

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  1. 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

    Bing Yu

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Yu, B. Role of In Silico Tools in Gene Discovery. Mol Biotechnol 41, 296–306 (2009). https://doi.org/10.1007/s12033-008-9134-8

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