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

doi:10.1142/9789813235533_0050

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 journal › Conference article › peer-review

4 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 language	English (US)
Pages (from-to)	548-558
Number of pages	11
Journal	Pacific Symposium on Biocomputing
Volume	0
Issue number	212669
DOIs	https://doi.org/10.1142/9789813235533_0050
State	Published - 2018
Event	23rd Pacific Symposium on Biocomputing, PSB 2018 - Kohala Coast, United States Duration: Jan 3 2018 → Jan 7 2018

All Science Journal Classification (ASJC) codes

Biomedical Engineering
Computational Theory and Mathematics

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10.1142/9789813235533_0050

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

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.",

author = "Elisabetta Manduchi and Alessandra Chesi and Hall, {Molly A.} and Grant, {Struan F.A.} and Moore, {Jason H.}",

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T1 - Leveraging putative enhancer-promoter interactions to investigate two-way epistasis in Type 2 Diabetes GWAS

AU - Manduchi, Elisabetta

AU - Chesi, Alessandra

AU - Hall, Molly A.

AU - Grant, Struan F.A.

AU - Moore, Jason H.

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

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EP - 558

JO - Pacific Symposium on Biocomputing

JF - Pacific Symposium on Biocomputing

IS - 212669

T2 - 23rd Pacific Symposium on Biocomputing, PSB 2018

Y2 - 3 January 2018 through 7 January 2018

ER -

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

Abstract

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