1479-TOPMed转录组表达与剪接定量性状位点研究

这项研究通过对TOPMed计划中超过1.4万份人类RNA测序样本进行跨队列分析，构建了一个大规模且遗传多样化的表达定量性状位点（eQTL）和剪接定量性状位点（sQTL）数据集。研究人员利用全血和肺部等多种组织的大样本量，成功鉴定出数以万计的次级信号，揭示了基因表达调控的复杂性。通过将这些分子性状位点与全基因组关联分析（GWAS）信号进行共定位，该研究为超过一万个遗传关联信号提炼了潜在的致病基因和分子机制。研究结果强调，增加样本量和遗传多样性对于发现罕见变异驱动的调控效应以及提升对人类复杂性状的理解至关重要。此项工作为解释非编码基因组变异的功能提供了高质量的参考资源，并指明了未来扩大组织类型和样本规模的研究方向。References:Orchard P, Blackwell T W, Kachuri L, et al. Cross-cohort analysis of expression and splicing quantitative trait loci in TOPMed[J]. Science, 2026, 393(6808): eadx2989.前往小宇宙评论区与主播互动

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1479-TOPMed转录组表达与剪接定量性状位点研究

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