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

Elisabetta Manduchi, Alessandra Chesi, Molly A. Hall, Struan F.A. Grant, Jason H. Moore

Research output: Contribution to journalConference article

2 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)548-558
Number of pages11
JournalPacific Symposium on Biocomputing
Volume0
Issue number212669
DOIs
StatePublished - Jan 1 2018
Event23rd Pacific Symposium on Biocomputing, PSB 2018 - Kohala Coast, United States
Duration: Jan 3 2018Jan 7 2018

All Science Journal Classification (ASJC) codes

  • Biomedical Engineering
  • Computational Theory and Mathematics

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