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Detecting and Characterizing Pleiotropy:

New Methods for Uncovering the Connection between the Complexity of Genomic Architecture and Multiple Phenotypes


There is a growing appreciation for the importance and role of pleiotropy in genetic architecture, with new approaches for investigating pleiotropy across the genome in different but complementary ways. These studies have ranged in the organisms of study, from model organisms to humans, as well as a wide range of genetic variation (such as gene knockouts, SNPs, and CNVs) and phenotypes (such as quantitative, dichotomous, and intermediate phenotypes).

These studies are shifting the focus from the single-gene, single-phenotype paradigm to exposing the dynamic network that links gene products and metabolites to the complex landscape of interrelated phenotypes. To sharpen our understanding of this network and its role health and disease, we need new statistical, experimental, and visualization techniques.

This session will focus broadly on pleiotropy and computational methods for measuring and analyzing pleiotropy. It will bring together scientists with backgrounds investigating pleiotropy from different angles to discuss the current state and future of pleiotropy research.

Session Topics

We invite contributions from diverse aspects of pleiotropy analysis which will stimulate conversation, collaboration, and advancement in our understanding of the phenome and the relationship between genomic data and the phenome. Such topics include
(1) Novel statistical approaches to specifically address the complexities of pleiotropy,
(2) Visualization methods for the analysis and communication of data from pleiotropy studies, and
(3) High-throughput techniques for measuring the complex landscape of phenotypes and endophenotypes.

Examples of topics and problems within the scope of this session include:

  • Novel statistical methods for addressing the burden of multiple testing in pleiotropy studies.
  • New methods for investigating the relationships between multiple phenotypes.
  • Clustering methods for dimensionality reduction of phenotype space.
  • High-throughput methods for the identification of general patterns linking genomic regions to multiple phenotypes.
  • Data visualization techniques for inspecting, analyzing and communicating data and results from pleiotropy studies.
  • Pleiotropy relating to emerging genomic data such as copy number variation and low-frequency variants.
  • Incorporation of gene-gene and gene-environment interactions into studies of pleiotropy.
  • Use of specialized genotyping arrays, such as Metabochip and Immunochip, which focus on multiple related traits.

Other topics within the subject area are welcome.

Session Co-Chairs

  • Sarah A. Pendergrass, Ph.D. Penn State University
  • Dana C. Crawford, Ph.D. Vanderbilt University
  • Anna L. Tyler, Ph.D. The Jackson Laboratory

Submission Information

Please note that the submitted papers are reviewed and accepted on a competitive basis.

Important Dates

  • Paper submissions due: July 31, 2013
  • Notification of paper acceptance: September 9, 2013
  • Camera-ready final paper deadline: October 1, 2013
  • Abstract deadline for unreviewed posters: November 15, 2013

Paper Format

Please see the PSB paper format template and instructions at

The file formats we accept are: postscript (*.ps) and Adobe Acrobat (*.pdf)). Attached files should be named with the last name of the first author (e.g. or altman.pdf). Hardcopy submissions or unprocessed TeX or LaTeX files will be rejected without review.

Each paper must be accompanied by a cover letter. The cover letter must state the following:

  • The email address of the corresponding author.
  • The specific PSB session that should review the paper or abstract.
  • The submitted paper contains original, unpublished results, and is not currently under consideration elsewhere.
  • All co-authors concur with the contents of the paper.

Submitted papers are limited to twelve (12) pages in our publication format. Please format your paper according to instructions found at If figures cannot be easily resized and placed precisely in the text, then it should be clear that with appropriate modifications, the total manuscript length would be within the page limit.