Duarte, J. D. & Cavallari, L. H. Pharmacogenetics to guide cardiovascular drug therapy. Nat. Rev. Cardiol. 18, 649–665 (2021).
Article PubMed PubMed Central Google Scholar
Klein, M. E., Parvez, M. M. & Shin, J.-G. Clinical implementation of pharmacogenomics for personalized precision medicine: barriers and solutions. J. Pharm. Sci. 106, 2368–2379 (2017).
Article CAS PubMed Google Scholar
McInnes, G. et al. Pharmacogenetics at scale: an analysis of the UK Biobank. Clin. Pharmacol. Ther. 109, 1528–1537 (2021).
Zhou, Y. & Lauschke, V. M. The genetic landscape of major drug metabolizing cytochrome P450 genes—an updated analysis of population-scale sequencing data. Pharmacogenom. J. 22, 284–293 (2022).
Luo, S. et al. Comprehensive allele genotyping in critical pharmacogenes reduces residual clinical risk in diverse populations. Clin. Pharmacol. Ther. 110, 759–767 (2021).
Article CAS PubMed PubMed Central Google Scholar
Kozyra, M., Ingelman-Sundberg, M. & Lauschke, V. M. Rare genetic variants in cellular transporters, metabolic enzymes, and nuclear receptors can be important determinants of interindividual differences in drug response. Genet. Med. 19, 20–29 (2017).
Article CAS PubMed Google Scholar
Hoshitsuki, K. et al. Challenges in clinical implementation of CYP2D6 genotyping: choice of variants to test affects phenotype determination. Genet. Med. 22, 232–233 (2020).
Tilleman, L., Weymaere, J., Heindryckx, B., Deforce, D. & Nieuwerburgh, F. V. Contemporary pharmacogenetic assays in view of the PharmGKB database. Pharmacogenomics 20, 261–272 (2019).
Article CAS PubMed Google Scholar
van der Lee, M., Kriek, M., Guchelaar, H.-J. & Swen, J. J. Technologies for pharmacogenomics: a review. Genes (Basel). 11, 1456 (2020).
Article PubMed PubMed Central Google Scholar
Wang, T. et al. The Human Pangenome Project: a global resource to map genomic diversity. Nature 604, 437–446 (2022).
Article ADS CAS PubMed PubMed Central Google Scholar
Luczak, T., Stenehjem, D. & Brown, J. Applying an equity lens to pharmacogenetic research and translation to under-represented populations. Clin. Transl. Sci. 14, 2117–2123 (2021).
Article PubMed PubMed Central Google Scholar
Lopes, J. L. et al. Targeted genotyping in clinical pharmacogenomics: what is missing.J. Mol. Diagn. 24, 253–261 (2022).
Article CAS PubMed PubMed Central Google Scholar
Cohn, I. et al. Genome sequencing as a platform for pharmacogenetic genotyping: a pediatric cohort study. npj. Genom. Med. 2, 19 (2017).
Botton, M. R. et al. Structural variation at the CYP2C locus: characterization of deletion and duplication alleles. Hum. Mutat. 40, e37–e51 (2019).
Article CAS PubMed PubMed Central Google Scholar
Lee, C. R. et al. Clinical pharmacogenetics implementation consortium guideline for CYP2C19 genotype and clopidogrel therapy: 2022 update. Clin. Pharmacol. Ther. 112, 959–967 (2022).
Article CAS PubMed Google Scholar
Theken, K. N. et al. Clinical Pharmacogenetics Implementation Consortium Guideline (CPIC) for CYP2C9 and Nonsteroidal Anti-Inflammatory Drugs. Clin Pharmacol Ther. 108, 191–200 (2020).
Cooper-DeHoff, R. M. et al. The clinical pharmacogenetics implementation consortium guideline for SLCO1B1, ABCG2, and CYP2C9 genotypes and statin-associated musculoskeletal symptoms. Clin. Pharmacol. Ther. 111, 1007–1021 (2022).
Article CAS PubMed Google Scholar
Pratt, V. M. et al. Recommendations for clinical CYP2C9 genotyping allele selection: a joint recommendation of the association for molecular pathology and College of American Pathologists. J. Mol. Diagn. 21, 746–755 (2019).
Article CAS PubMed PubMed Central Google Scholar
Pratt, V. M. et al. Recommendations for clinical CYP2C19 genotyping allele selection: a report of the association for molecular pathology. J. Mol. Diagn. 20, 269–276 (2018).
Article CAS PubMed Google Scholar
Reuter, M. S. et al. The Cardiac Genome Clinic: implementing genome sequencing in pediatric heart disease. Genet. Med. J. Am. Coll. Med. Genet. 22, 1015–1024 (2020).
Cohn, I. et al. Assessment of the implementation of pharmacogenomic testing in a pediatric tertiary care setting. JAMA Netw. Open 4, e2110446–e2110446 (2021).
Article PubMed PubMed Central Google Scholar
Gaedigk, A., Casey, S. T., Whirl-Carrillo, M., Miller, N. A. & Klein, T. E. Pharmacogene variation consortium: a global resource and repository for pharmacogene variation. Clin. Pharmacol. Ther. 110, 542–545 (2021).
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