Panoyan Mary Anne, Wendt Frank R
Department of Anthropology, University of Toronto, Mississauga, ON, Canada.
Biostatistics Division, Dalla Lana School of Public Health, University of Toronto, Toronto, ON, Canada.
Emerg Top Life Sci. 2023 Dec 14;7(3):249-263. doi: 10.1042/ETLS20230022.
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.
人类基因组包含众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研究，这促使人们开展研究工作以识别新的变异，并更深入地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，包括进行TR分析时遇到的挑战概述以及克服这些挑战的潜在解决方案。通过阐明这些问题，本文旨在有助于更好地理解TRs对新疾病治疗方法开发的影响。
