Exploring noncoding variants in genetic diseases:from detection to functional insights

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外文摘要：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 chal-lenges and propose potential solutions for unraveling the genetic basis of rare and complex diseases.

外文关键词：

Noncoding variationGenetic diseaseResearch approachChallenge

作者：

Ke Wu、Fengxiao Bu、Yang Wu、Gen Zhang、Xin Wang、Shunmin He、Mo-Fang Liu、Runsheng Chen、Huijun Yuan

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作者单位：

Institute of Rare Diseases,West China Hospital of Sichuan University,Chengdu,Sichuan 610041,China

Key Laboratory of Systems Health Science of Zhejiang Province,School of Life Science,Hangzhou Institute for Advanced Study,University of Chinese Academy of Sciences,Hangzhou,Zhejiang 310024,China

Key Laboratory of RNA Biology,Center for Big Data Research in Health,Institute of Biophysics,Chinese Academy of Sciences,Beijing 100101,China

University of Chinese Academy of Sciences,Beijing 100049,China

State Key Laboratory of Molecular Biology,State Key Laboratory of Cell Biology,Shanghai Key Laboratory of Molecular Andrology,Shanghai Institute of Biochemistry and Cell Biology,Center for Excellence in Molecular Cell Science,Chinese Academy of Sciences,Shanghai 200031,China

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基金：

National Key Research and Development Program of China1·3·5 Project for Disciplines of Excellence,West China Hospital,Sichuan UniversitySichuan Science and Technology Program

项目编号：

82030030ZYJC200022022YFS0211

出版年：

2024

DOI：

10.1016/j.jgg.2024.01.001

遗传学报

中国遗传学会中国科学院遗传与发育生物学研究所

遗传学报

CSTPCD

影响因子：0.821

ISSN：1673-8527

年,卷(期)：2024.51(2)

参考文献量286