From genetic associations to genes: methods, applications, and challenges.

IF 13.6 2区生物学 Q1 GENETICS & HEREDITY Trends in Genetics Pub Date : 2024-08-01 Epub Date: 2024-05-11 DOI:10.1016/j.tig.2024.04.008

Ting Qi, Liyang Song, Yazhou Guo, Chang Chen, Jian Yang

引用次数: 0

Abstract

Genome-wide association studies (GWASs) have identified numerous genetic loci associated with human traits and diseases. However, pinpointing the causal genes remains a challenge, which impedes the translation of GWAS findings into biological insights and medical applications. In this review, we provide an in-depth overview of the methods and technologies used for prioritizing genes from GWAS loci, including gene-based association tests, integrative analysis of GWAS and molecular quantitative trait loci (xQTL) data, linking GWAS variants to target genes through enhancer-gene connection maps, and network-based prioritization. We also outline strategies for generating context-dependent xQTL data and their applications in gene prioritization. We further highlight the potential of gene prioritization in drug repurposing. Lastly, we discuss future challenges and opportunities in this field.

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从基因关联到基因：方法、应用和挑战。

全基因组关联研究（GWAS）发现了许多与人类特征和疾病相关的基因位点。然而，精确定位因果基因仍然是一项挑战，这阻碍了将全基因组关联研究结果转化为生物学见解和医学应用。在这篇综述中，我们深入概述了用于从 GWAS 基因座中确定基因优先顺序的方法和技术，包括基于基因的关联测试、GWAS 和分子数量性状基因座（xQTL）数据的综合分析、通过增强子-基因连接图将 GWAS 变异与目标基因联系起来以及基于网络的优先顺序确定。我们还概述了生成上下文相关 xQTL 数据的策略及其在基因优先排序中的应用。我们进一步强调了基因优先排序在药物再利用中的潜力。最后，我们讨论了该领域未来的挑战和机遇。

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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来源期刊

Trends in Genetics 生物-遗传学

CiteScore

20.90

自引率

0.90%

发文量

160

审稿时长

6-12 weeks

期刊介绍： Launched in 1985, Trends in Genetics swiftly established itself as a "must-read" for geneticists, offering concise, accessible articles covering a spectrum of topics from developmental biology to evolution. This reputation endures, making TiG a cherished resource in the genetic research community. While evolving with the field, the journal now embraces new areas like genomics, epigenetics, and computational genetics, alongside its continued coverage of traditional subjects such as transcriptional regulation, population genetics, and chromosome biology. Despite expanding its scope, the core objective of TiG remains steadfast: to furnish researchers and students with high-quality, innovative reviews, commentaries, and discussions, fostering an appreciation for advances in genetic research. Each issue of TiG presents lively and up-to-date Reviews and Opinions, alongside shorter articles like Science & Society and Spotlight pieces. Invited from leading researchers, Reviews objectively chronicle recent developments, Opinions provide a forum for debate and hypothesis, and shorter articles explore the intersection of genetics with science and policy, as well as emerging ideas in the field. All articles undergo rigorous peer-review.

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