Integrative Tumor Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, 20892, USA.
Laboratory of Translational Genomics, Division of Cancer Epidemiology and Genetics, National Cancer Institute, Rockville, MD, 20892, USA.
BMC Bioinformatics. 2021 Dec 20;22(1):608. doi: 10.1186/s12859-021-04531-8.
Genome-wide association studies have identified thousands of genetic susceptibility loci associated with cancer as well as other traits and diseases. Mapping germline variation in identified genetic susceptibility regions to alterations in nearby gene expression nominates candidate genes potentially related to disease risk for further functional investigation. We developed LDexpress as an online resource that integrates population-specific linkage disequilibrium data from the 1000 Genomes (1000G) project and tissue-specific expression data from the Genotype-Tissue Expression project to better study regional germline variation impacting gene expression. LDexpress is a publicly available web tool designed to be easy to use, flexible to conduct a wide range of variant queries, and quick to efficiently investigate dozens of query variants across multiple tissue types. We demonstrate the utility of LDexpress using example genomic queries and anticipate this tool will accelerate understanding of disease etiology by uncovering associations of regional germline variation to nearby gene expression.
全基因组关联研究已经确定了数千个与癌症以及其他特征和疾病相关的遗传易感性基因座。将已确定的遗传易感性区域中的种系变异映射到附近基因表达的改变,提名候选基因,这些候选基因可能与疾病风险有关,需要进一步进行功能研究。我们开发了 LDexpress,这是一个在线资源,它整合了来自 1000 基因组计划(1000G)的特定人群连锁不平衡数据,以及来自基因型组织表达计划的组织特异性表达数据,以便更好地研究影响基因表达的区域种系变异。LDexpress 是一个公开可用的网络工具,旨在易于使用、灵活,可以进行广泛的变体查询,并且可以快速有效地在多种组织类型中研究数十个查询变体。我们使用示例基因组查询演示了 LDexpress 的实用性,并预计该工具将通过揭示区域种系变异与附近基因表达的关联,加速对疾病病因的理解。