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The in vitro mouse lymphoma assay (MLA) is one of the most widely practiced assays in genetic toxicology. MLA detects forward mutations at the thymidine kinase (Tk) locus of the L5178Y (Tk +/− -3.7.2C) cell line derived from a mouse thymic lymphoma. This assay is capable of detecting a wide range of genetic e ...

Bacterial mutagenicity tests, specifically the Salmonella and E. coli reverse mutation (Ames) test, are widely used and are usually required before a chemical, drug, pesticide, or food additive can be registered for use. The tests are also widely used for environmental monitoring to detect m ...

Implementing pharmacogenetics in daily clinical practice has the potential to improve patient care. The translation of results of pharmacogenetic studies into practical pharmacotherapeutic recommendations is essential. These recommendations are preferably avail ...

In this chapter, we use calculation of estimated warfarin maintenance dosage as an example to illustrate how to develop a multiple linear regression model to quantify the relationship between several independent variables (e.g., patients’ genotype information) and a dependent vari ...

Pharmacogenomics studies how the variations of the individuals’ genetic makeup are correlated with a person’s response to certain drugs in relation to the therapeutic efficiency, clinical outcome, or even survival, and how they affect drug metabolism, transport, or clearance. Yet, si ...

The Pharmacogenomics Knowledge Base, PharmGKB, is an interactive tool for researchers investigating how genetic variation affects drug response. The PharmGKB Web site, http://www.pharmgkb.org, displays genotype, molecular, and clinical knowledge integrated into pathway ...

Human genomics research has produced vast amounts of data that can be applied to or used to inform pharmacogenomic studies. The Internet is an extremely useful resource for pharmacogenomics as many Web sites provide access to data from genomic and clinical studies or host tools which can be used to ...

The hydrodynamic tail vein injection is a technique that is used to deliver nucleic acids into live mice. Delivery through this method results in the in vivo transfection of foreign DNA primarily in the liver. Here, we describe the use of this technique to test for regulatory activity of liver promot ...

The identification of causative genes underlying biomedically relevant phenotypes, particularly complex multigenic traits, is of vital interest to modern medicine. Using genome-wide association analysis, many studies have successfully identified thousands of loci (c ...

Metabolism catalyzed by the cytochrome P450 enzymes (CYPs) represents the most important pathway for drug metabolism and elimination in humans. Identification of the CYPs responsible for metabolism of existing and novel drugs is critical for the prediction of adverse reactions cau ...

Clinical studies have strongly suggested that genetic polymorphisms and/or mutations of certain ATP-binding cassette (ABC) transporter genes might be regarded as significant factors affecting patients’ responses to medication and/or the risk of diseases. In the case of ABCG2, ce ...

Genome-wide association (GWA) studies have identified thousands of genetic variants that contribute to disease and pharmacologic traits. More recently, high-throughput sequencing studies promise to provide a more complete catalog of genetic variants with roles in human phen ...

A growing number of noncoding variants are found to influence the susceptibility to common diseases and interindividual variation in drug response. However, the mechanisms by which noncoding variation affects cellular and clinical phenotypes remain to be elucidated. Allele-sp ...

The Illumina GoldenGate Assay is a technique that is widely used in molecular genetics to analyze up to thousands of single nucleotide polymorphism (SNPs) simultaneously, providing data of very high quality in a fast and efficient manner. This technique allows the user to optimize the number ...

For the past two decades, linkage analysis and genome-wide analysis have greatly advanced our knowledge of the human genome. But despite these successes the genetic architecture of diseases remains unknown. More recently, the availability of next-generation sequencing has dramat ...

Sequence variations in the human genome can affect the development of diseases and provide markers for the identification of genetic diseases and drug susceptibility. Single Nucleotide Polymorphisms (SNPs), the most abundant sequence variations in the genome, are used in pharmaco ...

Polymorphisms associated with genes that code for various drug-metabolizing enzymes (DMEs) and associated transport proteins can influence the rate of drug metabolism within individuals, thus potentially affecting drug efficacy and the occurrence of side effects. There are 2, ...

Major strengths of mass spectrometry analysis include the accuracy of the detection principle, automatic data storage as well as simplicity and flexibility of assay design making it a premier choice for targeted genotyping of sequence variations. We explain the assay principle in deta ...

For advancing personalized medicine, it is important to incorporate pharmacogenomics data into routine clinical practice. The SmartAmp method enables us to detect genetic polymorphisms or mutations in target genes within 30–40 min without DNA isolation and PCR amplification. The ...

Since the human genome has been fully sequenced, and presence of single nucleotide polymorphisms (SNPs) appeared abundant, many studies are associating SNPs with clinical response or even with disease. For some diseases or drug treatments these associations are clear, so that genetic s ...