ePGA: A Web-Based Information System for Translational Pharmacogenomics

PLoS One. 2016 Sep 15;11(9):e0162801. doi: 10.1371/journal.pone.0162801. eCollection 2016.

Abstract

One of the challenges that arise from the advent of personal genomics services is to efficiently couple individual data with state of the art Pharmacogenomics (PGx) knowledge. Existing services are limited to either providing static views of PGx variants or applying a simplistic match between individual genotypes and existing PGx variants. Moreover, there is a considerable amount of haplotype variation associated with drug metabolism that is currently insufficiently addressed. Here, we present a web-based electronic Pharmacogenomics Assistant (ePGA; http://www.epga.gr/) that provides personalized genotype-to-phenotype translation, linked to state of the art clinical guidelines. ePGA's translation service matches individual genotype-profiles with PGx gene haplotypes and infers the corresponding diplotype and phenotype profiles, accompanied with summary statistics. Additional features include i) the ability to customize translation based on subsets of variants of clinical interest, and ii) to update the knowledge base with novel PGx findings. We demonstrate ePGA's functionality on genetic variation data from the 1000 Genomes Project.

MeSH terms

  • Information Systems*
  • Internet*
  • Models, Theoretical
  • Pharmacogenetics*

Grants and funding

The reported work was funded by the eMoDiA (electronic Molecular Diagnostics Assistant) project (11_ΣΥΝ10145) under the ' Competitiveness and Entrepreneurship ' (OPCE II Greek-EU) operational program and the RD-Connect project (FP7-305444; European Commission) to GPP. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript.