ePGA: A Web-Based Information System for Translational Pharmacogenomics

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