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Exploring noncoding variants in genetic diseases: from detection to functional insights.
Wu, Ke; Bu, Fengxiao; Wu, Yang; Zhang, Gen; Wang, Xin; He, Shunmin; Liu, Mo-Fang; Chen, Runsheng; Yuan, Huijun.
Afiliación
  • Wu K; Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
  • Bu F; Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
  • Wu Y; Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
  • Zhang G; Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China.
  • Wang X; 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.
  • He S; 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.
  • Liu MF; 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; State Key Laboratory of Molecular Biology, State Key Laboratory of Cell Biology, Shanghai Key Lab
  • Chen R; Key Laboratory of RNA Biology, Center for Big Data Research in Health, Institute of Biophysics, Chinese Academy of Sciences, Beijing 100101, China. Electronic address: rschen@ibp.ac.cn.
  • Yuan H; Institute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan 610041, China. Electronic address: yuanhj301@wchscu.cn.
J Genet Genomics ; 51(2): 111-132, 2024 Feb.
Article en En | MEDLINE | ID: mdl-38181897
ABSTRACT
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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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Genómica Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Genet Genomics Año: 2024 Tipo del documento: Article País de afiliación: China
Texto completo
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Variación Genética / Genómica Tipo de estudio: Diagnostic_studies Límite: Humans Idioma: En Revista: J Genet Genomics Año: 2024 Tipo del documento: Article País de afiliación: China