Kaplun A, Hogan J D, Schacherer F, Peter A P, Krishna S, Braun B R, Nambudiry R, Nitu M G, Mallelwar R, Albayrak A
BIOBASE GmbH, Halchtersche Strasse 33, Wolfenbüttel, Germany.
Pharmacogenomics J. 2016 Apr;16(2):124-8. doi: 10.1038/tpj.2015.32. Epub 2015 May 5.
The PharmacoGenomic Mutation Database (PGMD) is a comprehensive manually curated pharmacogenomics database. Two major sources of PGMD data are peer-reviewed literature and Food and Drug Administration (FDA) and European Medicines Agency (EMA) drug labels. PGMD curators capture information on exact genomic location and sequence changes, on resulting phenotype, drugs administered, patient population, study design, disease context, statistical significance and other properties of reported pharmacogenomic variants. Variants are annotated into functional categories on the basis of their influence on pharmacokinetics, pharmacodynamics, efficacy or clinical outcome. The current release of PGMD includes over 117 000 unique pharmacogenomic observations, covering all 24 disease superclasses and nearly 1400 drugs. Over 2800 genes have associated pharmacogenomic 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 Single Nucleotide Polymorphisms (SNPs), insertions, deletions, haplotypes, diplotypes, Variable Number Tandem Repeats (VNTR), copy number variations and structural variations.
药物基因组突变数据库（PGMD）是一个经过全面人工整理的药物基因组学数据库。PGMD数据的两个主要来源是同行评审文献以及美国食品药品监督管理局（FDA）和欧洲药品管理局（EMA）的药品标签。PGMD的管理员收集有关确切基因组位置和序列变化、所产生的表型、所使用的药物、患者群体、研究设计、疾病背景、统计显著性以及所报告的药物基因组变异的其他特性的信息。变异根据其对药代动力学、药效学、疗效或临床结果的影响被注释到功能类别中。PGMD的当前版本包含超过117000条独特的药物基因组观察结果，涵盖所有24个疾病超类和近1400种药物。超过2800个基因具有相关的药物基因组变异，包括与基因间变异相邻的基因。PGMD通过为所有涵盖的变异提供基因组坐标进行了优化，以用于注释下一代测序数据，这些变异包括单核苷酸多态性（SNP）、插入、缺失、单倍型、双倍型、可变数目串联重复序列（VNTR）、拷贝数变异和结构变异。
