The NHGRI-EBI GWAS Catalog: standards for reusability, sustainability and diversity

IF 16.6 2区生物学 Q1 BIOCHEMISTRY & MOLECULAR BIOLOGY

Nucleic Acids Research Pub Date : 2024-11-12 DOI:10.1093/nar/gkae1070

Maria Cerezo, Elliot Sollis, Yue Ji, Elizabeth Lewis, Ala Abid, Karatuğ Ozan Bircan, Peggy Hall, James Hayhurst, Sajo John, Abayomi Mosaku, Santhi Ramachandran, Amy Foreman, Arwa Ibrahim, James McLaughlin, Zoë Pendlington, Ray Stefancsik, Samuel A Lambert, Aoife McMahon, Joannella Morales, Thomas Keane, Michael Inouye, Helen Parkinson, Laura W Harris

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引用次数: 0

Abstract

The NHGRI-EBI GWAS Catalog serves as a vital resource for the genetic research community, providing access to the most comprehensive database of human GWAS results. Currently, it contains close to 7 000 publications for >15 000 traits, from which more than 625 000 lead associations have been curated. Additionally, 85 000 full genome-wide summary statistics datasets—containing association data for all variants in the analysis—are available for downstream analyses such as meta-analysis, fine-mapping, Mendelian randomisation or development of polygenic risk scores. As a centralised repository for GWAS results, the GWAS Catalog sets and implements standards for data submission and harmonisation, and encourages the use of consistent descriptors for traits, samples and methodologies. We share processes and vocabulary with the PGS Catalog, improving interoperability for a growing user group. Here, we describe the latest changes in data content, improvements in our user interface, and the implementation of the GWAS-SSF standard format for summary statistics. We address the challenges of handling the rapid increase in large-scale molecular quantitative trait GWAS and the need for sensitivity in the use of population and cohort descriptors while maintaining data interoperability and reusability.

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NHGRI-EBI GWAS 目录：可重用性、可持续性和多样性标准

NHGRI-EBI GWAS 目录是遗传研究界的重要资源，提供了最全面的人类 GWAS 结果数据库。目前，该数据库收录了近 7000 篇关于 15000 个性状的论文，从中筛选出了 625000 多条相关线索。此外，85000 个全基因组汇总统计数据集（包含分析中所有变异的关联数据）可用于荟萃分析、精细图谱、孟德尔随机化或多基因风险评分等下游分析。作为 GWAS 结果的集中存储库，GWAS 目录制定并实施了数据提交和统一的标准，并鼓励对性状、样本和方法使用一致的描述符。我们与 PGS 目录共享流程和词汇，为不断增长的用户群提高互操作性。在此，我们将介绍数据内容的最新变化、用户界面的改进以及 GWAS-SSF 统计摘要标准格式的实施情况。我们将应对处理大规模分子定量性状 GWAS 快速增长所带来的挑战，以及在保持数据互操作性和可重用性的同时对使用群体和队列描述符的敏感性的需求。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Nucleic Acids Research 生物-生化与分子生物学

CiteScore

27.10

自引率

4.70%

发文量

1057

审稿时长

2 months

期刊介绍： Nucleic Acids Research (NAR) is a scientific journal that publishes research on various aspects of nucleic acids and proteins involved in nucleic acid metabolism and interactions. It covers areas such as chemistry and synthetic biology, computational biology, gene regulation, chromatin and epigenetics, genome integrity, repair and replication, genomics, molecular biology, nucleic acid enzymes, RNA, and structural biology. The journal also includes a Survey and Summary section for brief reviews. Additionally, each year, the first issue is dedicated to biological databases, and an issue in July focuses on web-based software resources for the biological community. Nucleic Acids Research is indexed by several services including Abstracts on Hygiene and Communicable Diseases, Animal Breeding Abstracts, Agricultural Engineering Abstracts, Agbiotech News and Information, BIOSIS Previews, CAB Abstracts, and EMBASE.