title: ePGA: A Web-Based Information System for Translational Pharmacogenomics.
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.
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology, Heraklion, Crete, Greece.
authors.forename: Kleanthi
authors.initials: K
authors.lastname: Lakiotaki
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology, Heraklion, Crete, Greece.
authors.forename: Evgenia
authors.initials: E
authors.lastname: Kartsaki
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology, Heraklion, Crete, Greece.
authors.forename: Alexandros
authors.initials: A
authors.lastname: Kanterakis
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, Rio, Patras, Greece.
authors.forename: Theodora
authors.initials: T
authors.lastname: Katsila
authors.affiliation: Department of Pharmacy, School of Health Sciences, University of Patras, Rio, Patras, Greece.
authors.forename: George P
authors.initials: GP
authors.lastname: Patrinos
authors.affiliation: Institute of Computer Science, Foundation for Research and Technology, Heraklion, Crete, Greece.
authors.forename: George
authors.initials: G
authors.lastname: Potamias
mesh_terms: D007256:Information Systems; D020407:Internet; D008962:Models, Theoretical; D010597:Pharmacogenetics