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多基因风险评分目录作为一个开放的数据库，用于可重复性和系统评估。

The Polygenic Score Catalog as an open database for reproducibility and systematic evaluation.

机构信息

Cambridge Baker Systems Genomics Initiative, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

British Heart Foundation Cardiovascular Epidemiology Unit, Department of Public Health and Primary Care, University of Cambridge, Cambridge, UK.

出版信息

Nat Genet. 2021 Apr;53(4):420-425. doi: 10.1038/s41588-021-00783-5.

DOI:10.1038/s41588-021-00783-5
PMID:33692568
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11165303/
Abstract

We present the Polygenic Score (PGS) Catalog (https://www.PGSCatalog.org), an open resource of published scores (including variants, alleles and weights) and consistently curated metadata required for reproducibility and independent applications. The PGS Catalog has capabilities for user deposition, expert curation and programmatic access, thus providing the community with a platform for PGS dissemination, research and translation.

摘要

我们介绍了多基因风险评分 (PGS) 目录 (https://www.PGSCatalog.org)，这是一个开放的资源，包含已发表的评分 (包括变体、等位基因和权重) 以及为可重复性和独立应用所需的一致维护的元数据。PGS 目录具有用户提交、专家审核和编程访问的功能，从而为社区提供了一个 PGS 传播、研究和转化的平台。

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