ezQTL:A Web Platform for Interactive Visualization and Colocalization of QTLs and GWAS Loci

作     者：Tongwu Zhang Alyssa Klein Jian Sang Jiyeon Choi Kevin M.Brown Tongwu Zhang;Alyssa Klein;Jian Sang;Jiyeon Choi;Kevin M.Brown

作者机构：Division of Cancer Epidemiology and GeneticsNational Cancer InstituteBethesdaMD 20892USA 

出 版 物：《Genomics, Proteomics & Bioinformatics》 (基因组蛋白质组与生物信息学报（英文版）)

年 卷 期：2022年第20卷第3期

页      面：541-548页

核心收录：

学科分类：0831[工学-生物医学工程（可授工学、理学、医学学位）] 0711[理学-系统科学] 07[理学] 08[工学] 

基　　金：the Intramural Research Program(Grant No.1ZIACP010201) the Division of Cancer Epidemiology and Genetics Informatics Tool Challenge of NCI 

主　　题：Genome-wide association study Expression quantitative trait locus Colocalization Linkage disequilibrium Visualization 

摘      要：Genome-wide association studies(GWAS)have identified thousands of genomic loci associated with complex diseases and traits,including *** vast majority of common traitassociated variants identified via GWAS fall in non-coding regions of the genome,posing a challenge in elucidating the causal variants,genes,and mechanisms *** quantitative trait locus(eQTL)and other molecular QTL studies have been valuable resources in identifying candidate causal genes from GWAS loci through statistical colocalization *** QTL colocalization is becoming a standard analysis in post-GWAS investigation,an easy web tool for users to perform formal colocalization analyses with either user-provided or public GWAS and eQTL datasets has been ***,we present ezQTL,a web-based bioinformatic application to interactively visualize and analyze genetic association data such as GWAS loci and molecular QTLs under different linkage disequilibrium(LD)patterns(1000 Genomes Project,UK Biobank,or user-provided data).This application allows users to perform data quality control for variants matched between different datasets,LD visualization,and two-trait colocalization analyses using two state-of-the-art methodologies(eCAVIAR and HyPrColoc),including batch *** is a free and publicly available cross-platform web tool,which can be accessed online at https://***/ezqtl.