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Updated: Jun 16, 2026

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T2T-CHM13改进了瑞典人口中临床相关遗传变异的读取映射和检测

Daniel Schmitz1, Adam Ameur2, Åsa Johansson1

  • 1Department of Immunology, Genetics, and Pathology, Science for Life Laboratory, Uppsala University, 751 08 Uppsala, Sweden Daniel.schmitz@igp.uu.se asa.johansson@igp.uu.se.

Genome research
|September 16, 2025
PubMed
概括

新的T2T-CHM13人类基因组参考改进了全基因组测序分析,增强了读取映射和变异调用精度,以更好地发现疾病基因.

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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...