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

Sarah A. Pendergrass, Scott M. Dudek, Dana C. Crawford, Marylyn D. Ritchie

Research output: Contribution to journalArticle

31 Scopus citations

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.

Original languageEnglish (US)
Article number5
JournalBioData Mining
Volume5
Issue number1
DOIs
StatePublished - 2012

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Computer Science Applications
  • Computational Theory and Mathematics
  • Computational Mathematics

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