Studying Pharmacogenetics


Included below are two recent publications where researchers have used data and samples from the 1000 Genomes Project to study pharmacogenetics. Pharmacogenetics is the study of genetic variation that impacts how we respond to medications.

In the first study scientists used 1000 Genomes Project data and samples to characterize three genes that impact drug response. The authors identified several new genetic profiles in genes that impact a wide range of medications, including antifungals, antidepressants, and medications used to reduce the risk of heart disease and stroke.

In the second study scientists developed a new approach to characterize genetic variation in a gene called NUDT15 using 1000 Genomes Project samples. Genetic variation in NUDT15 can impact how children with leukemia respond to cancer treatment, and this new approach is a more accurate way for doctors to test their patients.

The first article, “CYP2C8, CYP2C9, and CYP2C19 Characterization Using Next-Generation Sequencing and Haplotype Analysis” by A. Gaedigk et al., was published in the Journal of Molecular Diagnostics.

The second article, “Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery” by E. Scott et al., was published in Human Mutation.

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