Keeping pace with CYP2D6 haplotype discovery: innovative methods to assign function
Keeping pace with CYP2D6 haplotype discovery: innovative methods to assign function
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DOI：
10.2217/pgs-2021-0149
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发表时间：
2022-01-27
期刊：
影响因子：
2.1
通讯作者：
Woodahl, Erica L.
中科院分区：
文献类型：
--
作者：
Brown, Karen E.;Staples, Jack W.;Woodahl, Erica L.
想知道#pgx如何跟上CYP 2D 6单倍型的快速发现？请参阅这篇对#CYP2D6单倍型分配功能的创新方法的综述。#pharmacogenomics #pharmacogenetics #precisionmedicine #pgxread @ericawoodahl @karenbrown_mt @ umontana CYP 2D 6药效基因中功能未知或不确定的单倍型的发现正在超越传统的体外和体内方法来表征其功能的能力。随着药物基因组学研究对全球不同人群的包容性越来越强，这一挑战无疑会越来越大。由于准确的表型分配是至关重要的药物基因组学的效用，高通量技术是需要这个复杂的药效基因。我们描述了不断发展的景观的创新方法，分配功能的CYP 2D 6单体型和采用这些技术的可能性到凝聚力的过程。有前途的方法包括ADME优化的预测框架，机器学习算法，深度突变扫描和表型转化预测。实施这些方法将改善患者的个性化治疗。
Tweetable abstract Wondering how #pgx can keep pace with the rapid discovery of CYP2D6 haplotypes? See this review of innovative methods to assign function to #CYP2D6 haplotypes. #pharmacogenomics #pharmacogenetics #precisionmedicine #pgxread @ericawoodahl @karenbrown_mt @umontanaThe discovery of haplotypes with unknown or uncertain function in the CYP2D6 pharmacogene is outpacing the capabilities of traditional in vitro and in vivo approaches to characterize their function. This challenge will undoubtedly grow as pharmacogenomic research becomes more inclusive of globally diverse populations. As accurate phenotypic assignment is paramount to the utility of pharmacogenomics, high-throughput technologies are needed for this complex pharmacogene. We describe the evolving landscape of innovative approaches to assign function to CYP2D6 haplotypes and possibilities for adopting these technologies into cohesive processes. Promising approaches include ADME optimized prediction frameworks, machine learning algorithms, deep mutational scanning and phenoconversion predictions. Implementing these approaches will lead to improved personalization of treatment for patients.