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Project Details

Pharmacogenetics for Every Nation Initiative-South Africa (PGENI-SA): Affymetrix DMET & NGS Data Analysis

Timeframe: August 1, 2013 - November 1, 2013

Principal Investigator: Somervuo, Panu

Description: Inappropriate drug dosage and adverse drug responses can lead to extended hospital stays, placing an unnecessary burden on national health budgets. To facilitate both research and future diagnostic applications, Affymetrix has developed a microarray which focuses and probes known genetic variations in all FDA-validated genes. Currently, the Affymetrix DMET Plus assay provides the greatest portrayal of genetic diversity across the known Absorption, Distribution, Metabolism and Excretion (ADME) markers. It is therefore crucial to question how well the current DMET array represents African genome variants. Some variants may be common in Caucasian, African, and other populations, but some variants of pharmacogenetic interest are population or sub-population specific. In an effort to improve the use of pharmacogenetics oriented genotyping assays in African populations, the proposed research project aims to study genetic variation within African populations to identify similarities/differences with publicly available genotypes (for which detailed drug and dosage information currently exists) and to analyze existing DMET data for Xhosa and South African mixed ancestry populations to establish whether currently available DMET platforms are suitable for African populations in general.

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