Skip to main content

Functionally Informative Tag SNP Selection Using a Pareto-Optimal Approach

  • Conference paper
  • First Online:
Book cover Advances in Computational Biology

Part of the book series: Advances in Experimental Medicine and Biology ((AEMB,volume 680))

Abstract

Selecting a representative set of single nucleotide polymorphism (SNP) markers for facilitating association studies is an important step to uncover the genetic basis of human disease. Tag SNP selection and functional SNP selection are the two main approaches for addressing the SNP selection problem. However, little was done so far to effectively combine these distinct and possibly competing approaches. Here, we present a new multiobjective optimization framework for identifying SNPs that are both informative tagging and have functional significance (FS). Our selection algorithm is based on the notion of Pareto optimality, which has been extensively used for addressing multiobjective optimization problems in game theory, economics, and engineering. We applied our method to 34 disease-susceptibility genes for lung cancer and compared the performance with that of other systems which support both tag SNP selection and functional SNP selection methods. The comparison shows that our algorithm always finds a subset of SNPs that improves upon the subset selected by other state-of-the-art systems with respect to both selection objectives.

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 219.00
Price excludes VAT (USA)
  • Available as EPUB and PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 279.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 379.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

References

  1. Adiwijaya BS, Barton PI, Tidor B (2006) Biological network design strategies: Discovery through dynamic optimization. Mol Biosyst. 2(12): 650–659.

    Article  PubMed  CAS  Google Scholar 

  2. Bafna V, Halldórsson BV, Schwartz R et al (2003) Haplotypes and informative SNP selection algorithms: Don’t block out information. In Proceedings of the 7th International Conference on Computational Molecular Biology (RECOMB). 19–27.

    Google Scholar 

  3. Calzolari D, Bruschi S, Coquin L, et al (2008) Search algorithms as a framework for the optimization of drug combinations. PLoS Comput Biol. 4(12): e1000249.

    Article  PubMed  Google Scholar 

  4. Czyzak P, Jaszkiewicz A (1998) Pareto simulated annealing – A metaheuristic technique for multiple objective combinatorial optimization. J Multi-Criteria Decis Anal. 7: 34–47.

    Article  Google Scholar 

  5. Handl J, Kell DB, Knowles J (2007) Multiobjective optimization in bioinformatics and computational biology. IEEE/ACM Trans Comput Biol Bioinform. 4(2): 279–292.

    Article  PubMed  CAS  Google Scholar 

  6. Hemminger BM, Saelim B, Sullivan PF (2006) TAMAL: An integrated approach to choosing SNPs for genetic studies of human complex traits. Bioinformatics. 22(5): 626–627.

    Article  PubMed  CAS  Google Scholar 

  7. Johnson GCL, Esposito L, Barratt BJ, et al (2001) Haplotype tagging for the identification of common disease genes. Nat Genet. 29(2): 233–237.

    Article  PubMed  CAS  Google Scholar 

  8. Kirkpatrick S, Gelatt C, Vecchi M (1983) Optimization by simulated annealing. Science. 22: 671–680.

    Article  Google Scholar 

  9. Kirman AP (1987) Pareto as an economist, 5, 804–808. In Durlauf S N and Blume L E (ed), The New Palgrave: A Dictionary of Economics. Palgrave Macmillan, Hampshire, England.

    Google Scholar 

  10. Lee PH, Shatkay H (2007) Two birds, one stone: Selecting functionally informative tag SNPs for disease association studies. In the Proceedings of the 7th Workshop of Algorithms in Bioinformatics (WABI). 61–72.

    Google Scholar 

  11. Lee PH, Shatkay H (2009) An integrative scoring system for ranking SNPs by their potential deleterious effects. Bioinformatics. 25(8): 1048–1055.

    Article  PubMed  CAS  Google Scholar 

  12. Pettersson FH, Anderson CA, Clarke GM, et al (2009) Marker selection for genetic case-control association studies. Nat Protoc. 4(5): 743–752.

    Article  PubMed  CAS  Google Scholar 

  13. Rebbeck TR, Spitz M, Wu X (2004). Assessing the function of genetic variants in candidate gene association studies. Nat Rev Genet. 5: 589–597.

    Article  PubMed  CAS  Google Scholar 

  14. Sherry ST, Ward MH, Kholodov M, et al (2001) dbSNP: The NCBI database of genetic variation. Nucl Acids Res. 29(1): 308–311.

    Article  PubMed  CAS  Google Scholar 

  15. The International HapMap Consortium (2005) A haplotype map of the human genome. Nature. 437: 1299–1320.

    Article  Google Scholar 

  16. Xu H, Gregory SG, Hauser ER et al (2005) SNPselector: A web tool for selecting SNPs for genetic association studies. Bioinformatics. 21(22): 4181–4186.

    Article  PubMed  CAS  Google Scholar 

  17. Zhu Y, Hoffman A, Wu X et al (2008) Correlating observed odds ratios from lung cancer case-control studies to SNP functional scores predicted by bioinformatics tools. Mutat Res. 639: 80–88.

    Article  PubMed  CAS  Google Scholar 

Download references

Acknowledgments

This work was supported by HS's NSERC Discovery grant 298292-04 and CFI New Opportunities Award 10437.

Author information

Authors and Affiliations

Authors

Corresponding author

Correspondence to Phil Hyoun Lee .

Editor information

Editors and Affiliations

Rights and permissions

Reprints and permissions

Copyright information

© 2010 Springer Science+Business Media, LLC

About this paper

Cite this paper

Lee, P.H., Jung, JY., Shatkay, H. (2010). Functionally Informative Tag SNP Selection Using a Pareto-Optimal Approach. In: Arabnia, H. (eds) Advances in Computational Biology. Advances in Experimental Medicine and Biology, vol 680. Springer, New York, NY. https://doi.org/10.1007/978-1-4419-5913-3_20

Download citation

Publish with us

Policies and ethics