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Updated: May 29, 2026

Pre-Implantation Genetic Testing for Aneuploidy on a Semiconductor Based Next-Generation Sequencing Platform
Published on: August 17, 2022
[Future directions of pharmacogenomics (PGx)]
1Center for Genomic Medicine (CGM), RIKEN, 1-7-22 Suehiro-cho, Tsurumi-ku, Yokohama, Japan. kamatani@msb.biglobe.ne.jp
Genome-wide association studies (GWAS) analyze genomic variations to understand individual differences and disease associations. These findings are increasingly applied to pharmacogenomics and novel drug discovery.
Area of Science:
- Genetics
- Genomics
- Statistical Genetics
Context:
- Individual differences arise from genetic and environmental factors.
- Genome-wide association study (GWAS) is a key technology for analyzing genomic variations.
- GWAS examines associations between millions of polymorphic loci and phenotypic variations.
Purpose:
- To analyze associations between genomic variations and traits using statistical genetics.
- To identify genes linked to diseases and physical or clinical data.
- To explore the application of GWAS in genome-wide drug discovery (GWDD) and pharmacogenomics.
Summary:
- GWAS analyzes the relationship between genetic variations (genotypes/alleles) and observable traits (phenotypes).
- Phenotypes studied include diseases and clinical data, revealing drug targets within associated genes.
- GWAS has identified genes linked to specific drug reactions, influencing pharmacogenomics.
Impact:
- GWAS results can accelerate the development of new drugs (GWDD).
- The technology is transforming pharmacogenomics by linking genomic variations to drug responses.
- Identified gene-drug associations include statin-induced myopathy and adverse reactions to carbamazepine.
Related Concept Videos
Pharmacogenetics and Pharmacogenomics: Overview
Pharmacogenomics: Identification of New Drug Targets
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu
Pharmacogenetics of Drug Metabolism: Overview
Principles of Pharmacogenetics: Types of Genetic Variants
Pharmacogenetics of Phase I Enzymes: Cytochrome P450 Isozymes

