Copy number variants and pharmacogenomics

Author:

Ouahchi Karim12,Lindeman Neal12,Lee Charles12

Affiliation:

1. Brigham and Women’s Hospital, Department of Pathology, 20 Shattuck Street, Thorn 612A, Boston, MA 02115, USA.

2. Harvard Medical School, 25 Shattuck Street, Boston, MA 02115, USA

Abstract

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.

Publisher

Future Medicine Ltd

Subject

Pharmacology,Genetics,Molecular Medicine

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