Despite accumulating evidence implicating noncoding variants in human diseases, unraveling their functionality remains a significant challenge. Systematic annotations of the regulatory landscape and the growth of sequence variant data sets have fueled the development of tools and methods to identify causal noncoding variants and evaluate their regulatory effects. Here, we review the latest advances in the field and discuss potential future research avenues to gain a more in-depth understanding of noncoding regulatory variants.

中文翻译：

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大海捞针：发现非编码监管变体的策略

尽管越来越多的证据表明人类疾病中存在非编码变异，但阐明它们的功能仍然是一个重大挑战。监管环境的系统注释和序列变异数据集的增长推动了识别因果非编码变异并评估其监管效果的工具和方法的开发。在这里，我们回顾了该领域的最新进展，并讨论了未来潜在的研究途径，以更深入地了解非编码监管变体。