串联重复扩展在脑部疾病中的作用。

IF 3.4 Q2 BIOCHEMISTRY & MOLECULAR BIOLOGY Emerging Topics in Life Sciences Pub Date : 2023-12-14 DOI:10.1042/ETLS20230022
Mary Anne Panoyan, Frank R Wendt
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引用次数: 0

摘要

人类基因组中存在着许多导致不同健康和疾病结果的基因多态性。串联重复(TR)位点具有高度多态性,但在大型基因组研究中却未得到充分调查,这促使研究人员努力发现新的变异,并深入了解它们在人类生物学和疾病结果中的作用。我们总结了目前对TRs及其对人类健康和疾病影响的理解,包括概述了在进行TR分析时遇到的挑战以及克服这些挑战的潜在解决方案。通过阐明这些问题,本文旨在帮助人们更好地了解 TRs 对开发新疾病治疗方法的影响。
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The role of tandem repeat expansions in brain disorders.

The human genome contains numerous genetic polymorphisms contributing to different health and disease outcomes. Tandem repeat (TR) loci are highly polymorphic yet under-investigated in large genomic studies, which has prompted research efforts to identify novel variations and gain a deeper understanding of their role in human biology and disease outcomes. We summarize the current understanding of TRs and their implications for human health and disease, including an overview of the challenges encountered when conducting TR analyses and potential solutions to overcome these challenges. By shedding light on these issues, this article aims to contribute to a better understanding of the impact of TRs on the development of new disease treatments.

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CiteScore
7.70
自引率
0.00%
发文量
94
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