Pharmacogenomics Research Today is a free monthly online journal that collates and summarizes the latest research about Pharmacogenomics, including details on pharmacology, designer drugs, customized medicines.

Copy number variants and pharmacogenomics.

Ouahchi K, Lindeman N, Lee C

Brigham and Women's Hospital, Department of Pathology, and Harvard Medical School, Boston, MA 02115, USA.

The earliest pharmacogenomic studies focused on highly penetrant sequence polymorphisms in drug-metabolizing enzymes. The recent discovery of the widespread occurrence of copy number variants/polymorphisms in the human genome holds promise for new pharmacogenomic discoveries, aside from the commonly used single nucleotide polymorphism approach. Here we review the discovery of copy number variants and speculate on their implications for pathophysiology and pharmacogenomics.

Published 15 December 2005 in Pharmacogenomics, 7(1): 25-9.
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