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研究绘制出统一化的人类基因表达和剪接定量性状位点图谱
2021-09-09 15:31

爱沙尼亚塔尔图大学Kaur Alasoo、英国剑桥大学Daniel R. Zerbino等研究人员合作绘制出统一化的人类基因表达和剪接定量性状位点图谱。相关论文于2021年9月6日发表于国际学术期刊《自然—遗传学》。

研究人员表示,许多基因表达定量性状位点(eQTL)研究已经公布了它们的汇总统计,通过下游分析,如精细图谱和共定位,可以用来深入了解复杂的人类性状。然而,这些数据集之间的技术差异是阻碍其广泛使用的一个障碍。因此,大多数全基因组关联研究(GWAS)信号的目标基因仍未被确定。

研究人员提出了eQTL Catalogue (https://www.ebi.ac.uk/eqtl),这是一个由21项研究的质量控制、统一重新计算的基因表达和拼接QTL资源。研究人员发现,对于匹配的细胞类型和组织,eQTL效应大小在不同的研究之间是高度可重复的。尽管大多数QTL在大多数大体组织之间是共享的,但研究人员从纯化的细胞类型中发现了更多的细胞类型特异性QTLs,其中的一个子集也表现为新的疾病共线。该汇总统计可免费使用,以便系统地解释许多细胞类型和组织之间的人类GWAS关联。

附:英文原文

Title: A compendium of uniformly processed human gene expression and splicing quantitative trait loci

Author: Kerimov, Nurlan, Hayhurst, James D., Peikova, Kateryna, Manning, Jonathan R., Walter, Peter, Kolberg, Liis, Samovia, Marija, Sakthivel, Manoj Pandian, Kuzmin, Ivan, Trevanion, Stephen J., Burdett, Tony, Jupp, Simon, Parkinson, Helen, Papatheodorou, Irene, Yates, Andrew D., Zerbino, Daniel R., Alasoo, Kaur

Issue&Volume: 2021-09-06

Abstract: Many gene expression quantitative trait locus (eQTL) studies have published their summary statistics, which can be used to gain insight into complex human traits by downstream analyses, such as fine mapping and co-localization. However, technical differences between these datasets are a barrier to their widespread use. Consequently, target genes for most genome-wide association study (GWAS) signals have still not been identified. In the present study, we present the eQTL Catalogue (https://www.ebi.ac.uk/eqtl), a resource of quality-controlled, uniformly re-computed gene expression and splicing QTLs from 21 studies. We find that, for matching cell types and tissues, the eQTL effect sizes are highly reproducible between studies. Although most QTLs were shared between most bulk tissues, we identified a greater diversity of cell-type-specific QTLs from purified cell types, a subset of which also manifested as new disease co-localizations. Our summary statistics are freely available to enable the systematic interpretation of human GWAS associations across many cell types and tissues.

DOI: 10.1038/s41588-021-00924-w

Source: https://www.nature.com/articles/s41588-021-00924-w

Nature Genetics:《自然—遗传学》,创刊于1992年。隶属于施普林格·自然出版集团,最新IF:41.307
官方网址:https://www.nature.com/ng/
投稿链接:https://mts-ng.nature.com/cgi-bin/main.plex


本期文章:《自然—遗传学》:Online/在线发表

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