PRL Papers

The Polymorphism Research Laboratory


The Polymorphism Research Laboratory focus is on the application of more powerful multivariate statistical methods to studies of genetic variation and heritable aspects of disease resistance and disease states. Here are some of the papers that come from that interest.
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This spreadsheet is of supplementary material to the following manuscripts:

  • Comprehensive Linkage Analysis of 4344 Sibling Pairs Affected with Hypertension from the Family Blood Pressure Program Tiffany A. Greenwood, Ondrej Libiger, Sharon Kardia, Craig Hanis, Charles Gu, Michael Miller, Alan B. Weder, Nicholas J. Schork
  • Linkage Heterogeneity Analysis of Affected Sibpairs from the FBPP Study Tiffany A. Greenwood, Ondrej Libiger, Alanna Morrison, Stephen Turner, Richard Myers, Treva Rice, John Grove, Chin-Fu Hsiao, Nicholas J. Schork

Matthew A. Zapala, Gene Hsaio, Katharine N. Chang, Nicholas J. Schork
Evolgenomic: A Tool for Translational Genomics
The inference that a gene or set of genes influencing phenotypes in model organisms also influence similar phenotypes in humans is complicated by a number of evolutionarily mediated phenomena. Many human association studies that are based on gene expression studies in mice are complicated by

  1. A lack of insight as to how the gene in question fits into larger species and tissue-specific regulatory networks that influence phenotypic expression;
  2. No firm understanding of the issues and potential effects evolutionary forces may have had in shaping the function or impact of a gene of interest

Thus, evolutionarily mediated phenomena such as gene duplications, chromosomal re-arrangements, species-specific polymorphisms, protein structural changes, and others, can all impact the expression of a gene in one species relative to another. There has yet to be an assessment of multiple evolutionary factors which might lead to insights into the reliability of translating gene expression across mice and into human populations. We are building a software tool, Evolgenomic, that provides bench scientists with a user-friendly intuitive tool to empower them to gain knowledge into how evolutionary factors may have impacted their candidate genes.

Copy of ASHG 2005 Poster: ZapalaASHGposter.pdf

 

Tiffany A. Greenwood, Nicholas J. Schork, Eleazar Eskin, and John R. Kelsoe
Identification of Additional Variants within the Human Dopamine Transporter Gene Provides Further Evidence for an Association with Bipolar Disorder in Two Independent Samples. (submitted) Table of data analyzed: DAT1-SNPs.xls.

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