Input


Available in VCF format;you may download an example VCF file
List of variant RS ids; Translation is performed just on these variants. You may download and save an example file, which then you may store and upload
Please refer to the Purpose and Use of ePGA Translation Service

Pharmacogenomics (PGx) Translation Service


"It’s far more important to know what person the disease has than what disease the person has"

Hippocrates

(c. 460 bc - c. 375 bc)

ePGA: Purpose and Use


ePGA TRANSLATION SERVICE IS SOLELY FOR RESEARCH,
DEMONSTRATIONAL & EDUCATIONAL PURPOSES

ePGA Translation Service is meant to DEMONSTRATE the potential of translating validated PGx knowledge into clinical practice

In its current implementation ePGA Translation Service use just public-domain and completely anonymous genotype profiles
from the 1000 Genomes project (Phase I/1092 sample cases, Phase III / 2504 sample cases) in order to demonstrate its functionality


  • The ePGA Translation Service adheres to the emerging trend of pre-emptive high-throughput genotyping as a vital clinical (diagnostic and prognostic) decision making component aiming to offer respective genotype-to-phenotype inference services as a mean to translate PGx knowledge from bench-to-bedside.
  • The ePGA Translation Service is based on ‘matching’ individual genotype (SNP) profiles with PGx gene haplotypes, and the subsequent inference of the corresponding metabolizer phenotypes. Currently ePGA/Translation component employs harmonized haplotypes-tables as registered and curated by PharmGKB (the most advanced PGx knowledge base).The developers of ePGA are planning to expand the system in order to capture and cover PGx knowledge from other sources as well.
  • ePGA developers reserve the right at any time, to make changes to the whole or any part of the services offered on this Web-site as it deems appropriate.

About

ePGA Translation considers the entire list of SNPs.



About

Custom Translation considers only the list of SNPs uploaded.



About

Gene Summary is based on ePGA(FULL) Translation.



About

Sample Summary is based on ePGA(FULL) Translation.