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Pac Symp Biocomput. 2018;23:548-558.

Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS.

Author information

1
Department of Biostatistics, Epidemiology, and Informatics, University of Pennsylvania, 3700 Hamilton Walk, Philadelphia, PA, 19104, USA, ²Division of Human Genetics and Endocrinology, The Children's Hospital of Philadelphia, 3615 Civic Center Boulevard, Philadelphia, PA 19104, USA, manduchi@pennmedicine.upenn.edu.

Abstract

We utilized evidence for enhancer-promoter interactions from functional genomics data in order to build biological filters to narrow down the search space for two-way Single Nucleotide Polymorphism (SNP) interactions in Type 2 Diabetes (T2D) Genome Wide Association Studies (GWAS). This has led us to the identification of a reproducible statistically significant SNP pair associated with T2D. As more functional genomics data are being generated that can help identify potentially interacting enhancer-promoter pairs in larger collection of tissues/cells, this approach has implications for investigation of epistasis from GWAS in general.

PMID:
29218913
PMCID:
PMC5728670
[Indexed for MEDLINE]
Free PMC Article

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