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2016 ; 16
(2
): 124-8
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English Wikipedia
PGMD: a comprehensive manually curated pharmacogenomic database
#MMPMID25939485
Kaplun A
; Hogan JD
; Schacherer F
; Peter AP
; Krishna S
; Braun BR
; Nambudiry R
; Nitu MG
; Mallelwar R
; Albayrak A
Pharmacogenomics J
2016[Apr]; 16
(2
): 124-8
PMID25939485
show ga
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.