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Statistical Genetics — Present and Future

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Book cover Exploratory Data Analysis in Empirical Research
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Abstract

One major task of statistical genetics is the development of efficient methods to identify disease predisposing genes. While genetic mapping and positional cloning of Mendelian disorders can be considered routine nowadays, this systematic approach was successful only for one complex disorder, type II diabetes mellitus. It might hence be questioned whether this route should still be followed for unraveling the genetic background of a disease. One answer to this has been the development of new molecular biological techniques. In this paper, we sketch the recently developed techniques that might be alternatives for the identification of disease susceptibility genes and their function. We illustrate the absolute need for new statistical methods by means of two areas of current research, genomewideassociation analysis and gene expression arrays. Here, developments are required in study design, quality control and statistical data analysis. We conclude that these manifold challenges can only be accomplished in an interdisciplinary team.

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References

  • BÖDDEKER, I. and ZIEGLER, A. (2000): Assoziations-und Kopplungsstudien zur Analyse von Kandidatengenen. Dtsch Med Wochenschr, Vol. 125, 810–815.

    Article  Google Scholar 

  • COLLINS, F. S. (1995): Positional Cloning Moves From Perditional to Traditional. Nat Genet, Vol. 9, 347–350.

    Article  Google Scholar 

  • DUDOIT, S., et al. (2000): Statistical Methods for Identifying Differentially Expressed Genes in Replicated cDNA Microarray Experiments. Tech. Rep. 578, Dept. of Statistics, University of California at Berkeley.

    Google Scholar 

  • EILERS, P. H. C., et al. (2001): Classification of Microarray Data With Penalized Logistic Regression. Proceedings of Photonics West 2001: Biomedical Optics Symposium (BIOS), in press.

    Google Scholar 

  • EISEN, M. B., et al. (1998): Cluster Analysis and Display of Genome-Wide Expression Patterns. Proc Natl Acad Sci, Vol. 95, 14863–14868.

    Article  Google Scholar 

  • GORDON, D., HEATH, S. C. and OTT, J. (1999): True Pedigree Errors More Frequent Than Apparent Errors for Single Nucleotide Polymorphisms. Hum Hered, Vol. 49, 65–70.

    Article  Google Scholar 

  • HEGDE, P., et al. (2000): A Concise Guide to cDNA Microarray Analysis. BioTechniques, Vol. 29, 548–562.

    Google Scholar 

  • HORIKAWA, Y, et al. (2000): Genetic Variation in the Gene Encoding Calpain-10 is Associated With Type 2 Diabetes mellitus. Nat Genet, Vol. 26, 163–75.

    Article  Google Scholar 

  • HORVATH, S. and BAUR, M. P. (2000): Future Directions of Research in Statistical Genetics. Stat Med, Vol. 19, 3337–3343.

    Article  Google Scholar 

  • KERR, M. K. and CHURCHILL, G. A. (2001): Experimental Design for Gene Expression Microarrays. Biostatistics, in press.

    Google Scholar 

  • LEE, M.-L. T., et al. (2000): Importance of Replication in Microarray Gene Expression Studies: Statistical Methods and Evidence from Repetitive cDNA Hybridizations. Proc Natl Acad Sci, Vol. 97, 9834-9839.

    Google Scholar 

  • OMIM: Online Mendelian Inheritance in Man, OMIM (TM). Johns Hopkins University, Baltimore. http://www.ncbi.nlm.nih.gov/omim/

  • PRITCHARD, J. K. and ROSENBERG, N. A. (1999): Use of Unlinked Genetic Markers to Detect Population Stratification in Association Studies. Am J Hum Genet, Vol. 65, 220–228.

    Article  Google Scholar 

  • SCHÄFFER, A. A. (1998): Coping With Complexity: Lessons From the Mathematical Sciences. Hum Genet, Vol. 103, 5–10.

    Article  Google Scholar 

  • STRACHAN, T. and READ, A. P. (1999): Human Molecular Genetics. 2nd ed. John Wiley & Sons, New York.

    Google Scholar 

  • TERWILLIGER, J. D. and GÖRING, H. H. H. (2000): Gene Mapping in the 20th and 21st Centuries: Statistical Methods, Data Analysis, and Experimental Design. Hum Biol, Vol. 72, 63–132.

    Google Scholar 

  • The International SNP Map Working Group (2001): A Map of Human Genome Sequence Variation Containing 1.42 Million Single Nucleotide Polymorphisms. Nature, Vol. 409, 928–933.

    Article  Google Scholar 

  • WEISS, K. M. and TERWILLIGER, J. D. (2000): How Many Diseases Does It Take To Map a Gene With SNPs? Nat Genet, Vol. 26, 151–157.

    Article  Google Scholar 

  • YANG, Y. H., et al. (2000): Normalization for cDNA Microarray Data. Tech. Rep. 589, Dept. of Statistics, University of California at Berkeley.

    Google Scholar 

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© 2003 Springer-Verlag Berlin Heidelberg

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Ziegler, A., Hartmann, O., König, I.R., Schäfer, H. (2003). Statistical Genetics — Present and Future. In: Schwaiger, M., Opitz, O. (eds) Exploratory Data Analysis in Empirical Research. Studies in Classification, Data Analysis, and Knowledge Organization. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-55721-7_41

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  • DOI: https://doi.org/10.1007/978-3-642-55721-7_41

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-44183-0

  • Online ISBN: 978-3-642-55721-7

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