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Phenotyping Genetic Diseases Using an Extension of µ-Scores for Multivariate Data

Author

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  • Morales José F.

    (The Rockefeller University)

  • Song Tingting

    (The Rockefeller University)

  • Auerbach Arleen D.

    (The Rockefeller University)

  • Wittkowski Knut M.

    (The Rockefeller University)

Abstract

As the field of genomics matures, more complex genotypes and phenotypes are being studied. Fanconi anemia (FA), for example, is an inherited chromosome instability syndrome with a complex array of variable disease phenotypes including congenital malformations, hematological manifestations, and cancer. To better understand specific aspects of the genetic etiology of FA and other rare diseases with complex phenotypes, it is often necessary to reduce the dimensions of the disease phenotype information. Towards this end, we extend a novel non-parametric approach to include information about a hierarchical structure among disease phenotypes. The proposed extension increases information content of the phenotype scores obtained and, thereby, the power of genotype-phenotype relationships studies.

Suggested Citation

  • Morales José F. & Song Tingting & Auerbach Arleen D. & Wittkowski Knut M., 2008. "Phenotyping Genetic Diseases Using an Extension of µ-Scores for Multivariate Data," Statistical Applications in Genetics and Molecular Biology, De Gruyter, vol. 7(1), pages 1-20, June.
    • Handle: RePEc:bpj:sagmbi:v:7:y:2008:i:1:n:19
    DOI: 10.2202/1544-6115.1372
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    References listed on IDEAS

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    Cited by:

    1. Wittkowski Knut M. & Song Tingting & Anderson Kent & Daniels John E., 2008. "U-Scores for Multivariate Data in Sports," Journal of Quantitative Analysis in Sports, De Gruyter, vol. 4(3), pages 1-24, July.

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