Genomics & Pharmacogenomics

Biography

Biography: Alexander Kaplun

Abstract

The Pharmaco-Genomic Mutation Database (PGMD) is a comprehensive manually curated pharmaco-genomics database. Th e aim of this database is to provide a comprehensive resource for all variants that have been reported to have a pharmacogenomic eff ect in human studies and to describe those variants by exact genomic location and sequence alterations for application to NGS data analysis. Th e database is designed to contain extensive information as evidence for these associations including provenance of every observation. Two major sources of PGMD data are peer reviewed literature and FDA drug labels. PGMD curators capture information on exact genomic location and sequence changes resulting phenotype, drugs administered, patient population, study design, disease context, statistical signifi cance and other properties of reported pharmaco-genomic variants. Variants are annotated into functional categories basing on their infl uence on pharmacokinetics, pharmacodynamics, effi cacy or clinical outcome. Th e current release of PGMD includes nearly 140000 unique pharmaco-genomic observations, covering all 24 disease super classes and 1377 drugs. Over 2800 genes have associated pharmaco-genomic variants including genes in proximity to intergenic variants. PGMD is optimized for use in annotating next generation sequencing data by providing genomic coordinates for all covered variants including SNPs, insertions, deletions, haplotypes, diplotypes, VNTRs, copy number variations and structural variations.