Biomedical and Translational Informatics Laboratory

Epistasis Discovery in Genetics and Epidemiology

The Epistasis Discovery in Genetics and Epidemiology (EDGE) conference focuses on the discussion and exploration of the impact of genetic interactions on complex traits and outcomes. The EDGE meeting yearly invites a varying group of experts in epistasis across multiple disciplines from animal models to biostatistics, providing a unique and synergistic environment for sharing ideas, identifying new topics of research, as well as the development of novel methodologies for understanding the impact of genetic interactions on complex traits and outcomes. As a result of EDGE, new manuscripts and algorithms have been developed and shared with the scientific community.

Publications as a result of meeting collaborations:

Van Steen K, Moore JH. How to increase our belief in discovered statistical interactions via large-scale association studies?  Hum Genet. 2019 Apr;138(4):293-305. doi: 10.1007/s00439-019-01987-w. PM 30840129, PMC 6483943

Full Article Available Here:

Moore JH, Mackay TFC, Williams SM. Testing the assumptions of parametric linear models: the need for biological data mining in disciplines such as human genetics. BioData Min. 2019 Feb 11;12:6. doi: 10.1186/s13040-019-0194-z. PM 30792817, PMC 6371539 

Full Article Available Here:

Ritchie MD, Van Steen K. The search for gene-gene interactions in genome-wide association studies: challenges in abundance of methods, practical considerations, and biological interpretation. Ann Transl Med. 2018 Apr;6(8):157. doi: 10.21037/atm.2018.04.05. PM 29862246, PMC 5952010  

Full Article Available Here:

Ciesielski TH, Pendergrass SA, White MJ, Kodaman N, Sobota RS, Huang M, Bartlett J, Li J, Pan Q, Gui J, Selleck SB, Amos CI, Ritchie MD, Moore JH, Williams SM. Diverse convergent evidence in the genetic analysis of complex disease: coordinating omic, informatic, and experimental evidence to better identify and validate risk factors. BioData Min. 2014 Jun 30;7:10. doi: 10.1186/1756-0381-7-10. PM 29862246, PMC 4112852

Full Article Available Here:

Mackay TF, Moore JH. Why epistasis is important for tackling complex human disease genetics. Genome Med. 2014 Jun 9;6(6):124. doi: 0.1186/gm561. PM 25031624, PMC 4062066  

Full Article Available Here:



 Jason Moore
Jason Moore

 Professor and Director
Institute of Biomedical Informatics
 University of Pennsylvania

 Marylyn Ritchie
Marylyn D Ritchie

   Director, Center for Translational Bioinformatics, Institute for Biomedical Informatics (IBI) 
 Associate Director for Bioinformatics, IBI
  Associate Director, Center for Precision Medicine 
  University of Pennsylvania

 Scott Williams
Scott WIlliams

 Department of Population and Quantitative Health Sciences
 Case Western Reserve University

Meeting Coordinator

Hannah Chervitz
EDGE Meeting Coordinator 


Hannah Chervitz
Managing Director
Institute for Biomedical Informatics
University of Pennsylvania
T: 215-746-5143
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