The limits of genome-wide methods for pharmacogenomic testing.

Pharmacogenetics and Genomics
E R GamazonMinoli A Perera

Abstract

The goal of pharmacogenomics is the translation of genomic discoveries into individualized patient care. Recent advances in the means to survey human genetic variation are fundamentally transforming our understanding of the genetic basis of interindividual variation in therapeutic response. The goal of this study was to systematically evaluate high-throughput genotyping technologies for their ability to assay variation in pharmacogenetically important genes (pharmacogenes). These platforms are either being proposed for or are already being widely used for clinical implementation; therefore, knowledge of coverage of pharmacogenes on these platforms would serve to better evaluate current or proposed pharmacogenetic association studies. Among the genes included in our study are drug-metabolizing enzymes, transporters, receptors, and drug targets, of interest to the entire pharmacogenetic community. We considered absolute and linkage disequilibrium (LD)-informed coverage, minor allele frequency spectrum, and functional annotation for a Caucasian population. We also examined the effect of LD, effect size, and cohort size on the power to detect single nucleotide polymorphism associations. In our analysis of 253 pharmacogenes, we foun...Continue Reading

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Citations

Feb 13, 2013·International Journal of Pediatrics·O M Vanakker, A De Paepe
Aug 9, 2012·Future Cardiology·Larisa H Cavallari, Minoli A Perera
Aug 22, 2014·Pharmacogenomics·Clint MizziGeorge P Patrinos
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Dec 17, 2015·Pharmacogenomics·Catherine A WassenaarRachel F Tyndale
Mar 12, 2016·Nature Reviews. Drug Discovery·David S Wishart
Apr 11, 2015·Frontiers in Pharmacology·Theodora Katsila, George P Patrinos
Jan 18, 2019·Medicine·Nabil ZaidSaaid Amzazi
Oct 3, 2018·Pharmacogenomics·Louis-Philippe Lemieux PerreaultMarie-Pierre Dubé
Apr 4, 2021·Journal of Personalized Medicine·Sumi Elsa JohnFahd Al-Mulla

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