Considerations for rare variants in drug metabolism genes and the clinical implications.

Abstract excerpt

INTRODUCTION: Large-scale whole genome and exome resequencing studies have revealed that humans have a high level of deleterious rare variation, which has important implications for the design of future pharmacogenetics studies. AREAS COVERED: Current pharmacogenetic guidelines focus on the implementation of common variation into dosing guidelines. However, it is becoming apparent that rare variation may also...

Topics

• Biotransformation
• Cytochrome P-450 Enzyme System
• Drug Dosage Calculations
• Genetic Variation
• Glucuronosyltransferase
• Humans
• Methyltransferases
• Polymorphism, Genetic
• Vitamin K Epoxide Reductases