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Updated: Sep 29, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
SNP databases and pharmacogenetics: great start, but a long way to go
Sharon Marsh1, Pui Kwok, Howard L McLeod
1Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, USA.
Abstract:
With the recent publication of the human genome project there has been an explosion of data available for pharmacogenetic research. Web-based databases containing information on single nucleotide polymorphisms (SNPs) are readily accessible to researchers, but there has been little comment on their utility. We used seven major international databases to identify SNPs in 74 genes involved in drug pathways. Very little overlap was seen among the databases, with only eight out of a putative 893 SNPs ( approximately 1%) common to the most commonly used databases. Problems with false positives, secondary to a high degree of homology in gene families, were also observed. These studies suggest researchers limiting their studies to one database would miss a great deal of information. Effort to update compilation databases, such as HGVbase, GeneSNP, PharmGKB, and HOWDY, and the aggressive removal of false positives from all databases is required if these resources are to facilitate the intended growth in pharmacogenetics research.
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