大海捞针:发现非编码调控变异的策略。

IF 8.7 1区生物学 Q1 GENETICS & HEREDITY Annual review of genetics Pub Date : 2023-11-27 Epub Date: 2023-08-10 DOI:10.1146/annurev-genet-030723-120717

You Chen, Mauricio I Paramo, Yingying Zhang, Li Yao, Sagar R Shah, Yiyang Jin, Junke Zhang, Xiuqi Pan, Haiyuan Yu

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引用次数: 0

摘要

尽管越来越多的证据表明非编码变异与人类疾病有关，但揭示它们的功能仍然是一个重大挑战。调控环境的系统注释和序列变异数据集的增长推动了工具和方法的发展，以识别因果非编码变异并评估其调控效果。在这里，我们回顾了该领域的最新进展，并讨论了潜在的未来研究途径，以获得对非编码调控变异体更深入的了解。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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Finding Needles in the Haystack: Strategies for Uncovering Noncoding Regulatory Variants.

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.

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来源期刊

Annual review of genetics 生物-遗传学

CiteScore

18.30

自引率

0.90%

发文量

期刊介绍： The Annual Review of Genetics, published since 1967, comprehensively covers significant advancements in genetics. It encompasses various areas such as biochemical, behavioral, cell, and developmental genetics, evolutionary and population genetics, chromosome structure and transmission, gene function and expression, mutation and repair, genomics, immunogenetics, and other topics related to the genetics of viruses, bacteria, fungi, plants, animals, and humans.

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