Unknown

Dataset Information

0

Visually integrating and exploring high throughput Phenome-Wide Association Study (PheWAS) results using PheWAS-View.


ABSTRACT: BACKGROUND:Phenome-Wide Association Studies (PheWAS) can be used to investigate the association between single nucleotide polymorphisms (SNPs) and a wide spectrum of phenotypes. This is a complementary approach to Genome Wide Association studies (GWAS) that calculate the association between hundreds of thousands of SNPs and one or a limited range of phenotypes. The extensive exploration of the association between phenotypic structure and genotypic variation through PheWAS produces a set of complex and comprehensive results. Integral to fully inspecting, analysing, and interpreting PheWAS results is visualization of the data. RESULTS:We have developed the software PheWAS-View for visually integrating PheWAS results, including information about the SNPs, relevant genes, phenotypes, and the interrelationships between phenotypes, that exist in PheWAS. As a result both the fine grain detail as well as the larger trends that exist within PheWAS results can be elucidated. CONCLUSIONS:PheWAS can be used to discover novel relationships between SNPs, phenotypes, and networks of interrelated phenotypes; identify pleiotropy; provide novel mechanistic insights; and foster hypothesis generation - and these results can be both explored and presented with PheWAS-View. PheWAS-View is freely available for non-commercial research institutions, for full details see http://ritchielab.psu.edu/ritchielab/software.

SUBMITTER: Pendergrass SA 

PROVIDER: S-EPMC3476448 | BioStudies | 2012-01-01

REPOSITORIES: biostudies

Similar Datasets

2013-01-01 | S-EPMC3561060 | BioStudies
2018-01-01 | S-EPMC5985339 | BioStudies
2015-01-01 | S-EPMC4765620 | BioStudies
2019-01-01 | S-EPMC6938343 | BioStudies
2019-01-01 | S-EPMC6564422 | BioStudies
2010-01-01 | S-EPMC2859132 | BioStudies
2013-01-01 | S-EPMC3637423 | BioStudies
2014-01-01 | S-EPMC4256091 | BioStudies
2017-01-01 | S-EPMC5501775 | BioStudies
1000-01-01 | S-EPMC4133579 | BioStudies