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Current Computational Methods for Prioritizing Candidate Regulatory Polymorphisms

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Biomedical Informatics

Part of the book series: Methods in Molecular Biology™ ((MIMB,volume 569))

Summary

Discovery of DNA sequence variants responsible for human phenotypic variation is key to advances in molecular diagnostics and medicines. Historically, variants that alter the protein-coding sequence of genes have been targeted when attempting to identify a trait’s etiology; this is done because the rules governing these regions are generally well-understood and candidate variants can be easily selected. However, the effects of variants on gene regulation are increasingly regarded as being as important as protein-coding variation in uncovering the nature of phenotypic variation. I discuss resources and methodology that have recently been developed to computationally prioritize variants that may alter gene expression.

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Acknowledgment

S.B.M. would like to thank Monica C. Sleumer, Daniel C. Jeffares, and Emmanouil T. Dermitzakis for critical review and support in development of this work. S.B.M. is funded by the European Molecular Biology Organization and the Natural Sciences and Engineering Research Council of Canada.

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  1. Wellcome Trust Sanger Institute, Hinxton, Cambridge, UK

    Stephen Montgomery

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  1. Biomedical Informatics Research Network, University of California, San Diego, Gilman Dr. 9500, La Jolla, 92093, U.S.A.

    Vadim Astakhov

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Montgomery, S. (2009). Current Computational Methods for Prioritizing Candidate Regulatory Polymorphisms. In: Astakhov, V. (eds) Biomedical Informatics. Methods in Molecular Biology™, vol 569. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59745-524-4_5

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  • DOI: https://doi.org/10.1007/978-1-59745-524-4_5

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