A Resource for Pharmacogenetics

Coriell offers resources for pharmacogenetic research, including lymphoblastoid cell lines and DNA samples, which are available through the NIGMS Human Genetics Cell Repository (HGCR). The genotypes for these samples have been obtained from dbSNPPharmGKBInternational HapMap Project, and the SNP500 Cancer Project as well as publications and independent researchers.

The pharmacogenetic genes of interest for which there are determined mutations are shown below. Please select:

  • Gene Name to show variants with samples in the catalog
    • Gene mutation to show samples in catalog with that mutation
    • SNP Finder to indicate samples in the catalog with data on that SNP
  • PharmGKB Link to link to extensive information about this gene
  • Entrez Gene Link to connect to NCBI Page

Visit the SNP Search page for additional information on SNPS of interest.

A list of repository samples with pharmacogenetic variants verified by sequencing is available in this spreadsheet.   

Genetic Testing Reference Material (GeT-RM)

The ongoing collaboration between the NIGMS Human Genetic Cell Repository and the Centers for Disease Control and Prevention's (CDC) GeT-RM program has resulted in the availability of a number of pharmacogenetic reference materials containing variants in many genes implicated in drug metabolism and response. These variants have been confirmed by multiple laboratories using different testing platforms. Please click here to access the NIGMS GeT-RM page. Click on the Pharmacogenomics links to view these samples with multiply confirmed mutations.

The list includes 137 ethnically diverse cell lines which were extensively characterized for 28 commonly tested pharmacogenetics genes. The Pharmacogenomics Research Network  page describes the molecular characterization published by Pratt VM et al. (J Mol Diag. 2016).

Samples Sequenced using the ThermoFisher Ion AmpliSeq™ Pharmacogenomics Panel

Twenty-four popular, broadly consented samples were selected for genotyping utilizing the Ion AmpliSeq panel from ThermoFisher. “Hotspots” including 136 SNPs, indels and copy number variations (CNV) in the drug metabolism enzyme (DME) genes were analyzed using this next-generation sequencing (NGS) panel. Several of these samples have been selected and characterized as reference materials by the Genome in a Bottle Consortium and the  National Instituteof Standards and Technology (NIST). Some include Centre d'Etude du Polymorphism Humain (CEPH) UTAH and Personal Genome Project  (PGP) families. To view the full list of samples, variants, and SNPS, detected by the sequencing panel, please click here.