GWAS in a box: statistical and visual analytics of structured associations via GenAMap.

With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a...

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Main Authors: Eric P Xing, Ross E Curtis, Georg Schoenherr, Seunghak Lee, Junming Yin, Kriti Puniyani, Wei Wu, Peter Kinnaird
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2014-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4048179?pdf=render
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author Eric P Xing
Ross E Curtis
Georg Schoenherr
Seunghak Lee
Junming Yin
Kriti Puniyani
Wei Wu
Peter Kinnaird
author_facet Eric P Xing
Ross E Curtis
Georg Schoenherr
Seunghak Lee
Junming Yin
Kriti Puniyani
Wei Wu
Peter Kinnaird
author_sort Eric P Xing
collection DOAJ
description With the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2) provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.
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spelling doaj.art-4bc064869a404720b64a362d94f3ef7d2022-12-21T18:40:57ZengPublic Library of Science (PLoS)PLoS ONE1932-62032014-01-0196e9752410.1371/journal.pone.0097524GWAS in a box: statistical and visual analytics of structured associations via GenAMap.Eric P XingRoss E CurtisGeorg SchoenherrSeunghak LeeJunming YinKriti PuniyaniWei WuPeter KinnairdWith the continuous improvement in genotyping and molecular phenotyping technology and the decreasing typing cost, it is expected that in a few years, more and more clinical studies of complex diseases will recruit thousands of individuals for pan-omic genetic association analyses. Hence, there is a great need for algorithms and software tools that could scale up to the whole omic level, integrate different omic data, leverage rich structure information, and be easily accessible to non-technical users. We present GenAMap, an interactive analytics software platform that 1) automates the execution of principled machine learning methods that detect genome- and phenome-wide associations among genotypes, gene expression data, and clinical or other macroscopic traits, and 2) provides new visualization tools specifically designed to aid in the exploration of association mapping results. Algorithmically, GenAMap is based on a new paradigm for GWAS and PheWAS analysis, termed structured association mapping, which leverages various structures in the omic data. We demonstrate the function of GenAMap via a case study of the Brem and Kruglyak yeast dataset, and then apply it on a comprehensive eQTL analysis of the NIH heterogeneous stock mice dataset and report some interesting findings. GenAMap is available from http://sailing.cs.cmu.edu/genamap.http://europepmc.org/articles/PMC4048179?pdf=render
spellingShingle Eric P Xing
Ross E Curtis
Georg Schoenherr
Seunghak Lee
Junming Yin
Kriti Puniyani
Wei Wu
Peter Kinnaird
GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
PLoS ONE
title GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
title_full GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
title_fullStr GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
title_full_unstemmed GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
title_short GWAS in a box: statistical and visual analytics of structured associations via GenAMap.
title_sort gwas in a box statistical and visual analytics of structured associations via genamap
url http://europepmc.org/articles/PMC4048179?pdf=render
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