Genome-Wide Association Studies Catalog

The Genome-Wide Association Studies (GWAS) Catalog provides a consistent, searchable, visualisable and freely available database of published SNP-trait associations, which can be easily integrated with other resources, and is accessed by scientists, clinicians and other users worldwide. Within the Catalog, all eligible GWA studies are identified by literature search and assessed by curators, who then extract the reported trait, significant SNP-trait associations, and sample metadata. The Catalog also publishes a GWAS diagram of SNP-trait associations, mapped onto the human genome by chromosomal location and displayed on the human karyotype. Since 2010, delivery and development of the Catalog has been a collaborative project between the EMBL-EBI and NHGRI. Since 2108 we have accepted statistics files for eligible publications, these can be submitted prior to publication. https://www.ebi.ac.uk/gwas/deposition全基因组关联研究（Genome-Wide Association Studies, GWAS）目录数据库提供统一、可检索、可可视化且免费开放的已发表单核苷酸多态性（Single Nucleotide Polymorphism, SNP）-性状关联记录库，可便捷地与其他科研资源整合对接，全球范围内的科研人员、临床医生及其他用户均可访问该数据库。在该目录数据库中，所有符合入组标准的全基因组关联研究均通过文献检索筛选，并由专业编审人员评估，随后提取所报道的性状、具有统计学显著性的SNP-性状关联信息以及样本元数据。该数据库还发布基于SNP-性状关联信息绘制的GWAS图谱，该图谱依据染色体位置将关联位点锚定至人类基因组，并可在人类核型图上进行展示。自2010年起，该数据库的运维与开发由欧洲分子生物学实验室欧洲生物信息研究所（EMBL-EBI）与美国国家人类基因组研究所（NHGRI）合作推进。自2018年起，本数据库开始接收符合入组标准的研究的统计数据文件，相关文件可在正式发表前提交。提交相关指南可访问：https://www.ebi.ac.uk/gwas/deposition

搜集汇总

背景与挑战

背景概述

该数据集是一个全基因组关联研究（GWAS）目录，提供已发表的SNP-性状关联数据库，支持搜索、可视化并与其它资源集成，由EMBL-EBI和NHGRI合作维护。它允许用户提交已发表或未发表的人类GWAS摘要统计数据，并提供了标准格式要求和提交指南。