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英国个人基因组计划,一个人类多组学数据的开放获取资源。

The Personal Genome Project-UK, an open access resource of human multi-omics data.

机构信息

UCL Cancer Institute, University College London, London, UK.

Barts Cancer Institute, Queen Mary University of London, London, UK.

出版信息

Sci Data. 2019 Oct 31;6(1):257. doi: 10.1038/s41597-019-0205-4.

Abstract

Integrative analysis of multi-omics data is a powerful approach for gaining functional insights into biological and medical processes. Conducting these multifaceted analyses on human samples is often complicated by the fact that the raw sequencing output is rarely available under open access. The Personal Genome Project UK (PGP-UK) is one of few resources that recruits its participants under open consent and makes the resulting multi-omics data freely and openly available. As part of this resource, we describe the PGP-UK multi-omics reference panel consisting of ten genomic, methylomic and transcriptomic data. Specifically, we outline the data processing, quality control and validation procedures which were implemented to ensure data integrity and exclude sample mix-ups. In addition, we provide a REST API to facilitate the download of the entire PGP-UK dataset. The data are also available from two cloud-based environments, providing platforms for free integrated analysis. In conclusion, the genotype-validated PGP-UK multi-omics human reference panel described here provides a valuable new open access resource for integrated analyses in support of personal and medical genomics.

摘要

多组学数据的综合分析是深入了解生物和医学过程功能的有力方法。对人类样本进行这些多方面的分析通常很复杂,因为原始测序结果很少在开放获取下可用。英国个人基因组计划(PGP-UK)是少数几个在开放同意下招募参与者并免费公开提供多组学数据的资源之一。作为该资源的一部分,我们描述了由十个基因组、甲基组和转录组数据组成的 PGP-UK 多组学参考面板。具体来说,我们概述了实施的数据处理、质量控制和验证程序,以确保数据完整性并排除样品混淆。此外,我们还提供了一个 REST API 来方便下载整个 PGP-UK 数据集。这些数据也可从两个基于云的环境中获得,为免费集成分析提供了平台。总之,这里描述的经过基因分型验证的 PGP-UK 多组学人类参考面板为支持个人和医学基因组学的综合分析提供了一个有价值的新开放获取资源。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/555e/6823446/1efa89a79cc2/41597_2019_205_Fig1_HTML.jpg

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