GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results

Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. Recently, there has been accumulating evidenc...

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Main Authors: Wei Wei, Paula S. Ramos, Kelly J. Hunt, Bethany J. Wolf, Gary Hardiman, Dongjun Chung
Format: Article
Language:English
Published: Wiley 2016-01-01
Series:International Journal of Genomics
Online Access:http://dx.doi.org/10.1155/2016/6589843
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author Wei Wei
Paula S. Ramos
Kelly J. Hunt
Bethany J. Wolf
Gary Hardiman
Dongjun Chung
author_facet Wei Wei
Paula S. Ramos
Kelly J. Hunt
Bethany J. Wolf
Gary Hardiman
Dongjun Chung
author_sort Wei Wei
collection DOAJ
description Genome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. Recently, there has been accumulating evidence suggesting that different complex traits share a common risk basis, namely, pleiotropy. Previously, a statistical method, namely, GPA (Genetic analysis incorporating Pleiotropy and Annotation), was developed to improve identification of risk variants and to investigate pleiotropic structure through a joint analysis of multiple GWAS datasets. While GPA provides a statistically rigorous framework to evaluate pleiotropy between phenotypes, it is still not trivial to investigate genetic relationships among a large number of phenotypes using the GPA framework. In order to address this challenge, in this paper, we propose a novel approach, GPA-MDS, to visualize genetic relationships among phenotypes using the GPA algorithm and multidimensional scaling (MDS). This tool will help researchers to investigate common etiology among diseases, which can potentially lead to development of common treatments across diseases. We evaluate the proposed GPA-MDS framework using a simulation study and apply it to jointly analyze GWAS datasets examining 18 unique phenotypes, which helps reveal the shared genetic architecture of these phenotypes.
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institution Kabale University
issn 2314-436X
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publishDate 2016-01-01
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spelling doaj-art-d6b4dfb0f2bd4298990d4cbbb48bd61f2025-02-03T01:26:27ZengWileyInternational Journal of Genomics2314-436X2314-43782016-01-01201610.1155/2016/65898436589843GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS ResultsWei Wei0Paula S. Ramos1Kelly J. Hunt2Bethany J. Wolf3Gary Hardiman4Dongjun Chung5Department of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USADepartment of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USADepartment of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USADepartment of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USADepartment of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USADepartment of Public Health Sciences, Medical University of South Carolina, Charleston, SC, USAGenome-wide association studies (GWAS) have identified tens of thousands of genetic variants associated with hundreds of phenotypes and diseases, which have provided clinical and medical benefits to patients with novel biomarkers and therapeutic targets. Recently, there has been accumulating evidence suggesting that different complex traits share a common risk basis, namely, pleiotropy. Previously, a statistical method, namely, GPA (Genetic analysis incorporating Pleiotropy and Annotation), was developed to improve identification of risk variants and to investigate pleiotropic structure through a joint analysis of multiple GWAS datasets. While GPA provides a statistically rigorous framework to evaluate pleiotropy between phenotypes, it is still not trivial to investigate genetic relationships among a large number of phenotypes using the GPA framework. In order to address this challenge, in this paper, we propose a novel approach, GPA-MDS, to visualize genetic relationships among phenotypes using the GPA algorithm and multidimensional scaling (MDS). This tool will help researchers to investigate common etiology among diseases, which can potentially lead to development of common treatments across diseases. We evaluate the proposed GPA-MDS framework using a simulation study and apply it to jointly analyze GWAS datasets examining 18 unique phenotypes, which helps reveal the shared genetic architecture of these phenotypes.http://dx.doi.org/10.1155/2016/6589843
spellingShingle Wei Wei
Paula S. Ramos
Kelly J. Hunt
Bethany J. Wolf
Gary Hardiman
Dongjun Chung
GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
International Journal of Genomics
title GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
title_full GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
title_fullStr GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
title_full_unstemmed GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
title_short GPA-MDS: A Visualization Approach to Investigate Genetic Architecture among Phenotypes Using GWAS Results
title_sort gpa mds a visualization approach to investigate genetic architecture among phenotypes using gwas results
url http://dx.doi.org/10.1155/2016/6589843
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AT bethanyjwolf gpamdsavisualizationapproachtoinvestigategeneticarchitectureamongphenotypesusinggwasresults
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