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 

机构地区：[1]Division of Cancer Epidemiology and Genetics,National Cancer Institute,Bethesda,MD 20892,USA

出　　处：《Genomics, Proteomics & Bioinformatics》2022年第3期541-548,共8页基因组蛋白质组与生物信息学报（英文版）

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

摘　　要：Genome-wide association studies(GWAS)have identified thousands of genomic loci associated with complex diseases and traits,including cancer.The 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 involved.Expression quantitative trait locus(eQTL)and other molecular QTL studies have been valuable resources in identifying candidate causal genes from GWAS loci through statistical colocalization methods.While 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 lacking.Here,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 processing.ezQTL is a free and publicly available cross-platform web tool,which can be accessed online at https://analysistools.cancer.gov/ezqtl.

关 键 词：Genome-wide association study Expression quantitative trait locus COLOCALIZATION Linkage disequilibrium VISUALIZATION 

分 类 号：Q811.4[生物学—生物工程]