Document Type
Article
Publication Date
2008
Keywords
multidimensional, ranking, Fanconi anemia, censoring, genotype, phenotype, non-parametric
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.
Publisher
http://hdl.handle.net/10209/490
RU Laboratory
Hospital Biostatistics, Krueger Laboratory
Permanent URL
http://hdl.handle.net/10209/490
Recommended Citation
Statistical Applications in Genetics and Molecular Biology (2008) 7 (1): 19
Comments
This work was partially supported by grants from NIH (R37HL32987) to Arlene D. Auerbach, and by an NIH/Clinical and Translational Science Award (CTSA) grant UL1 RR024143.