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<p>Dementia encompasses many neurodegenerative disorders. While some causal coding variants are known, most GWAS variants are in non-coding regions of the genome, making understanding functional impacts challenging. This review explores the role of non-coding variation in dementia, covering methods to identify enhancers and their target genes, prioritize GWAS variants, and validate the functional effects of variation, providing a comprehensive framework for investigating non-coding variation and its implications in dementia research.</p>

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Non-coding variation in dementias: mechanisms, insights, and challenges

  • 期刊论文

  • 出版模式：

    开放获取

  • 发表日期：

    2025年6月3日

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  • Brianne B. Rogers,
  • J. Nicholas Cochran

摘要

Dementia encompasses many neurodegenerative disorders. While some causal coding variants are known, most GWAS variants are in non-coding regions of the genome, making understanding functional impacts challenging. This review explores the role of non-coding variation in dementia, covering methods to identify enhancers and their target genes, prioritize GWAS variants, and validate the functional effects of variation, providing a comprehensive framework for investigating non-coding variation and its implications in dementia research.