Exploring noncoding variants in genetic diseases:from detection to functional insights
作者机构：Institute of Rare DiseasesWest China Hospital of Sichuan UniversityChengduSichuan 610041China Key Laboratory of Systems Health Science of Zhejiang ProvinceSchool of Life ScienceHangzhou Institute for Advanced StudyUniversity of Chinese Academy of SciencesHangzhouZhejiang 310024China Key Laboratory of RNA BiologyCenter for Big Data Research in HealthInstitute of BiophysicsChinese Academy of SciencesBeijing 100101China University of Chinese Academy of SciencesBeijing 100049China State Key Laboratory of Molecular BiologyState Key Laboratory of Cell BiologyShanghai Key Laboratory of Molecular AndrologyShanghai Institute of Biochemistry and Cell BiologyCenter for Excellence in Molecular Cell ScienceChinese Academy of SciencesShanghai 200031China
出 版 物：《Journal of Genetics and Genomics》 (遗传学报（英文版）)
年 卷 期：2024年第51卷第2期
页 面：111-132页
核心收录：
学科分类：0710[理学-生物学] 07[理学] 071007[理学-遗传学]
基 金：supported by the National Key Research and Development Program of China(82030030) the 1·3·5 Project for Disciplines of Excellence,West China Hospital Sichuan University(ZYJC20002)to H.Yuan Sichuan Science and Technology Program(2022YFS0211)to K.Wu
主 题：Noncoding variation Genetic disease Research approach Challenge
摘 要：Previous studies on genetic diseases predominantly focused on protein-coding variations, overlooking the vast noncoding regions in the human genome. The development of high-throughput sequencing technologies and functional genomics tools has enabled the systematic identification of functional noncoding variants. These variants can impact gene expression, regulation, and chromatin conformation, thereby contributing to disease pathogenesis. Understanding the mechanisms that underlie the impact of noncoding variants on genetic diseases is indispensable for the development of precisely targeted therapies and the implementation of personalized medicine strategies. The intricacies of noncoding regions introduce a multitude of challenges and research opportunities. In this review, we introduce a spectrum of noncoding variants involved in genetic diseases, along with research strategies and advanced technologies for their precise identification and in-depth understanding of the complexity of the noncoding genome. We will delve into the research challenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.
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