2008 CTSA Publications

The Rockefeller University, Center for Clinical and Translational Science

[ ] Title: Phenotyping genetic diseases using an extension of mu-scores for multivariate data.
Author(s): Morales, Jose F; Song, Tingting; Auerbach, Arleen D; Wittkowski, Knut M
Source: Stat Appl Genet Mol Biol Volume: 7 Issue: 1 Pages: Article 19

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.

PubMed ID: 18597665

Document Type: Journal Article; Research Support, N.I.H., Extramural
Address: The Rockefeller University. moralej@rockefeller.edu

...

Download selected to ...

2008 CTSA Publications (option2)

______________________

A Novel Non-Parametric Approach to the Analysis of Genetic Haplotypes and Genomic Pathways

K. M. Wittkowski

Source: Journal/American Journal of Human Genetics, 73, 5, 2560

ID: 0002-9297

Document Type: Journal Article

______________________

Effects and Non-Effects of Paired Identical Observations in Comparing Proportions with Binary Matched-Pairs Data - by A. Agresti and Y. Min, Statistics in Medicine 2004; 23 : 65-75

K. M. Wittkowski

Source: Journal/Statistics in Medicine, 23, 14, 2317-2317

ID: 0277-6715

Document Type: Journal Article

______________________

Combining Several Ordinal Measures in Clinical Studies

K. M. Wittkowski, E. Lee, R. Nussbaum, F. N. Chamian and J. G. Krueger

Source: Journal/Statistics in Medicine, 23, 10, 1579-1592

In medical research, it is rare that a single variable is sufficient to represent all relevant aspects of epidemiological risk, genomic activity, adverse events, or clinical response. Since biological systems tend to be neither linear, nor hierarchical in nature, the assumptions of traditional multivariate statistical methods based on the linear model can often not be justified on theoretical grounds. Establishing concept validity through empirical validation is not only problematic, but also time consuming. This paper proposes the use of u-statistics for scoring multivariate ordinal data and a family of simple nonparametric tests for analysis. The scoring method is demonstrated to be applicable to scoring clinical response profiles in the treatment of psoriasis and then to identifying genomic pathways that best correlate with these profiles. Copyright (C) 2004 John Wiley Sons, Ltd.

ID: 0277-6715

Document Type: Journal Article

______________________

Beyond the Tdt: Rejoinder to Ewens and Spielman

K. M. Wittkowski and X. Liu

Source: Journal/Human Heredity, 58, 1, 60-61

ID: 0001-5652

Document Type: Journal Article

2008 CTSA Publications (option 3)

Diana M, Song TT, Wittkowski KM. Studying travel-related individual assessments and desires by combining hierarchically structured ordinal variables. Transportation. 2009 Mar; 36(2):187-206.

Ramagopalan SV, McMahon R, Dyment DA, Sadovnick AD, Ebers GC, Wittkowski KM. An extension to a statistical approach for family based association studies provides insights into genetic risk factors for multiple sclerosis in the HLA-DRB1 gene. BMC Med Genet. 2009 Feb 4; 10(1):10. PMID: 19193207 / PMCID: PMC2669470

Chaussabel D, Quinn C, Shen J, Patel P, Glaser C, Baldwin N, Stichweh D, Blankenship D, Li L, Munagala I, Bennett L, Allantaz F, Mejias A, Ardura M, Kaizer E, Monnet L, Allman W, Randall H, Johnson D, Lanier A, Punaro M, Wittkowski KM, White P, Fay J, Klintmalm G, Ramilo O, Palucka AK, Banchereau J, Pascual V. A modular analysis framework for blood genomics studies: application to systemic lupus erythematosus. Immunity. 2008 Jul; 29(1):150-64. PMID: 18631455 / Free article for any healthcare practitioner, visitor or subscriber to the journal website, student or faculty member, researcher or librarian

Morales JF, Song T, Auerbach AD, Wittkowski KM. Phenotyping genetic diseases using an extension of mu-scores for multivariate data. Stat Appl Genet Mol Biol. 2008; 7(1):Article 19. Epub 2008 Jun 30. PMID: 18597665 / Free article at journal site

Papp KA, Fonjallaz P, Casset-Semanaz F, Krueger JG, Wittkowski KM. Analytical approaches to reporting long-term clinical trial data. Curr Med Res Opin. 2008 Jul; 24(7):2001-8. Epub 2008 Jun 4. PMID: 18534049

Sills ES, Kling TM, Sills SS, Burns MJ, Carroll LP, Parker LD, Wittkowski KM. Women's health measures in two North Carolina regions sampled from the Basic Automated Birth Yearbook (BABY) datasets: experimental findings, methodological limits and future directions. Clin Exp Obstet Gynecol. 2008; 35(1):27-31. PMID: 18390076

Wittkowski KM, Song T, Anderson K, Daniels JE. U-Scores for Multivariate Data in Sports. Journal of Quantitative Analysis in Sports 2008; 4(3): Article 7. Free article at journal site

Haider AS, Lowes MA, Suárez-Fariñas M, Zaba LC, Cardinale I, Khatcherian A, Novitskaya I, Wittkowski KM, Krueger JG. Identification of cellular pathways of "type 1," Th17 T cells, and TNF- and inducible nitric oxide synthase-producing dendritic cells in autoimmune inflammation through pharmacogenomic study of cyclosporine A in psoriasis. J Immunol. 2008 Feb 1; 180(3):1913-20. PMID: 18209089 / Free article at journal site