Copy number variants and pharmacogenomics.
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.
Ouahchi
Karim
K
Brigham and Women's Hospital, Department of Pathology, and Harvard Medical School, Boston, MA 02115, USA.
Lindeman
Neal
N
Lee
Charles
C
D000818:Animals; D030541:Databases, Genetic; D018628:Gene Dosage; D005819:Genetic Markers; D006801:Humans; D010597:Pharmacogenetics; D010601:Pharmacology, Clinical
D005819:Genetic Markers