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

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

Research output: Contribution to journalConference article

2 Citations (Scopus)

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

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Genome-Wide Association Study
Medical problems
Nucleotides
Genomics
Polymorphism
Type 2 Diabetes Mellitus
Single Nucleotide Polymorphism
Genes
Tissue

All Science Journal Classification (ASJC) codes

  • Medicine(all)

Cite this

Manduchi, Elisabetta ; Chesi, Alessandra ; Hall, Molly ; Grant, Struan F.A. ; Moore, Jason H. / Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS. In: Pacific Symposium on Biocomputing. 2018 ; Vol. 0, No. 212669. pp. 548-558.
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Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS. / Manduchi, Elisabetta; Chesi, Alessandra; Hall, Molly; Grant, Struan F.A.; Moore, Jason H.

In: Pacific Symposium on Biocomputing, Vol. 0, No. 212669, 01.01.2018, p. 548-558.

Research output: Contribution to journalConference article

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