Polygenic scores (PGSs) have transformed human genetic research and have numerous potential clinical applications. Here we present a series of recent enhancements to the PGS Catalog and highlight the PGS Catalog Calculator, an open-source, scalable and portable pipeline for reproducibly calculating PGSs that democratizes equitable PGS applications..

多基因评分（PGS）已经改变了人类遗传研究，并具有许多潜在的临床应用。在这里，我们介绍了PGS目录的一系列最新增强功能，并重点介绍了PGS目录计算器，这是一种开源，可扩展且可移植的管道，用于可重复计算PGS，使公平的PGS应用程序民主化。。

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Fig. 1: Data growth and improvement of the PGS Catalog.Fig. 2: The PGS Catalog Calculator for reproducible PGS calculation, with estimation and adjustment for genetic ancestry.

图1:PGS目录的数据增长和改进。图2:PGS目录计算器，用于可重复的PGS计算，并对遗传血统进行估计和调整。

Data availability

数据可用性

Data in the PGS Catalog are accessible via our website (http://www.PGSCatalog.org), FTP server (https://ftp.ebi.ac.uk/pub/databases/spot/pgs/) and REST API (http://www.PGSCatalog.org/rest). PGS in the Catalog are distributed according to the European Bioinformatic Institute’s terms of use (https://www.ebi.ac.uk/about/terms-of-use) or specifically marked with open-access licenses supplied by the authors.

PGS目录中的数据可以通过我们的网站访问(http://www.PGSCatalog.org)，FTP服务器(https://ftp.ebi.ac.uk/pub/databases/spot/pgs/)和REST API(http://www.PGSCatalog.org/rest)。目录中的PG是根据欧洲生物信息学研究所的使用条款分发的(https://www.ebi.ac.uk/about/terms-of-use)或专门标记有作者提供的开放获取许可证。

The processed reference panels 1kGP and 1kGP+HGDP are available from our FTP server (https://ftp.ebi.ac.uk/pub/databases/spot/pgs/resources/). UK Biobank data can be accessed via application (https://www.ukbiobank.ac.uk/enable-your-research/apply-for-access); the data for this publication were accessed as part of projects 49978 and 78537..

已处理的参考面板1kGP和1kGP+HGDP可从我们的FTP服务器获得(https://ftp.ebi.ac.uk/pub/databases/spot/pgs/resources/)。英国生物库数据可以通过应用程序访问(https://www.ukbiobank.ac.uk/enable-your-research/apply-for-access)；本出版物的数据是作为项目49978和78537的一部分访问的。。

Code availability

All codes for the PGS Catalog are hosted on GitHub under the PGS Catalog organization (https://github.com/PGScatalog/; see https://github.com/PGScatalog/pgsc_calc for calculator) and are released under an Apache v2 license.

PGS目录的所有代码都托管在PGS目录组织下的GitHub上(https://github.com/PGScatalog/；请参见https://github.com/PGScatalog/pgsc_calc用于计算器），并根据Apache v2许可证发布。

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在基因组学研究中使用种族，种族和血统作为人口描述符委员会等。在遗传学和基因组学研究中使用人口描述符（National Academies Press，2023）。Koenig，Z。等人，《基因组研究》。https://doi.org/10.1101/gr.278378.123（2023年）。下载参考文献致谢我们感谢PGS目录中所有出版物的作者在我们的数据库中提供了他们的数据并可索引，以及所有对我们的查询和数据请求做出回应的人。

We also thank the users of the PGS Catalog Calculator, especially those that have contributed to bug reports, feature requests, or discussions. This work was supported by core funding from the British Heart Foundation (BHF) (grants RG/18/13/33946 and RG/F/23/110103); the National Human Genome Research Institute of the National Institutes of Health (grant 1U24HG012542-01 to H.P.

我们还要感谢PGS目录计算器的用户，尤其是那些为错误报告、功能请求或讨论做出贡献的用户。；美国国立卫生研究院国家人类基因组研究所（H.P.授予1U24HG012542-01）。

and M.I.); the UK National Institute for Health and Care Research (NIHR) Cambridge Biomedical Research Centre (grants BRC-1215–20014 and NIHR203312); the Cambridge BHF Centre of Research Excellence (grants RE/18/1/34212 and RE/18/1/34212]); a BHF Chair Award (CH/12/2/29428); the European Union’s Horizon 2020 research and innovation program (under grant agreement 101016775 INTERVENE to H.P., M.I.

和M.I.）；英国国家卫生与保健研究所（NIHR）剑桥生物医学研究中心（授予BRC-1215-20014和NIHR203312）；剑桥BHF卓越研究中心（授予RE/18/1/34212和RE/18/1/34212））；BHF主席奖（CH/12/2/29428）；欧盟地平线2020研究与创新计划（根据授予协议101016775干预H.P.，M.I。

and B.W.); and by Health Data Research UK, which is funded by the UK Medical Research Council, Engineering and Physical Sciences Research Council, Economic and Social Research Council, Department of Health and Social Care (England), Chief Scientist Office of the Scottish Government Health and Social Care Directorates, Health and Social Care Research and Development Division (Welsh Government), Public Health Agency (Northern Ireland), British Heart Foundation and Wellcome.

和B.W.）；由英国医学研究委员会、工程和物理科学研究委员会、经济和社会研究委员会、卫生和社会保健部（英格兰）、苏格兰政府卫生和社会保健局首席科学家办公室、卫生和社会保健研究与发展司（威尔士政府）、公共卫生署（北爱尔兰）、英国心脏基金会和惠康资助的英国健康数据研究所资助。

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Samuel A. Lambert or Michael Inouye.Ethics declarations

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Competing interests

相互竞争的利益

M.I. is a trustee of the Public Health Genomics Foundation; is a member of the Scientific Advisory Board of Open Targets; and has research collaborations with AstraZeneca, Nightingale Health and Pfizer that are unrelated to this study. All other authors declare no competing interests.

M、 I.是公共卫生基因组学基金会的受托人；是开放目标科学咨询委员会的成员；并与阿斯利康、南丁格尔健康和辉瑞进行了与本研究无关的研究合作。所有其他作者都声明没有利益冲突。

Peer review

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Peer review information

同行评审信息

Nature Genetics thanks Niall Lennon and the other, anonymous, reviewer(s) for their contribution to the peer review of this work.

《自然遗传学》感谢尼尔·列侬和另一位匿名审稿人为这项工作的同行评审做出的贡献。

Supplementary informationSupplementary InformationSupplementary Notes 1–4, Supplementary Figures 1–6, and Supplementary Tables 1–2.Reporting SummaryRights and permissionsReprints and permissionsAbout this articleCite this articleLambert, S.A., Wingfield, B., Gibson, J.T. et al. Enhancing the Polygenic Score Catalog with tools for score calculation and ancestry normalization..

补充信息补充信息补充说明1-4，补充图1-6和补充表1-2.Reporting SummaryRights and Permissions打印和许可本文引用本文Lambert，S.A.，Wingfield，B.，Gibson，J.T.等人。使用分数计算和祖先标准化工具增强多基因分数目录。。

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