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Updated: Jun 17, 2026

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评估通过遗传性癌症患者基因组的目标适应性采样长读测序的有效性

Wataru Nakamura1,2, Makoto Hirata3,4, Satoyo Oda3,5

  • 1Division of Genome Analysis Platform Development, National Cancer Center Research Institute, Tokyo, Japan.

NPJ genomic medicine
|February 17, 2024
PubMed
概括

目标适应性采样长读测序 (TAS-LRS) 通过准确识别单核酸变异和复杂结构变异来改善遗传疾病诊断. 这种创新方法还分析了多基因风险和表观遗传改变,以获得全面的遗传见解.

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Genetic polymorphisms in drug targets have emerged as critical determinants of interindividual variability in drug response and toxicity. Pharmacogenomic investigations increasingly focus on identifying these variations to personalize and optimize therapeutic interventions. A drug target may be a receptor, enzyme, or signaling protein involved in pharmacologic responses or disease-related pathways. While early pharmacogenetic studies focused primarily on drug metabolism, current research...