GWAS ATLAS

ndreds of GWASs provides a unique opportunity to address these questions. We systematically analyzed 4,155 publicly available GWASs. For a subset of well-powered GWASs on 558 traits, we provide an extensive overview of pleiotropy and genetic architecture. We show that trait-associated loci cover more than half of the genome, and 90% of these overlap with loci from multiple traits. We find that potential causal variants are enriched in coding and flanking regions, as well as in regulatory elements, and show variation in polygenicity and discoverability of traits. Our results provide insights into how genetic variation contributes to trait variation. All GWAS results can be queried and visualized at the GWAS ATLAS resource ( https://atlas.ctglab.nl ).数以百计的全基因组关联研究（Genome-Wide Association Studies, GWAS）为解答相关问题提供了独特契机。本研究系统性分析了4155项公开可获取的全基因组关联研究。针对覆盖558个表型的一批统计效力充足的GWAS子集，本研究对其多效性与遗传架构展开了全面综述。研究显示，表型关联位点覆盖了超过半数的基因组，其中90%的位点与多个表型的关联位点存在重叠。本研究发现，潜在因果变异在编码区、侧翼区域以及调控元件中均存在富集，同时揭示了不同表型在多基因性与可发现性层面的差异。本研究结果为解析遗传变异如何影响表型变异提供了新视角。所有GWAS结果均可在全基因组关联研究图谱（GWAS ATLAS）资源平台（https://atlas.ctglab.nl）进行查询与可视化。

搜集汇总

背景与挑战

背景概述

GWAS ATLAS是一个公开的GWAS汇总统计数据库，收录了来自大量研究的数万个GWAS数据，支持通过曼哈顿图、风险位点、基因分析和遗传相关性等功能进行浏览与比较。该数据库旨在提供全面的遗传关联研究资源，用户可下载完整汇总统计并贡献缺失数据，相关成果已发表于《自然·遗传学》。