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儿童癌症单细胞RNA测序的数据标准

Data standards for single-cell RNA-sequencing of paediatric cancer.

作者信息

Xu Xiaohan, Saxon John, Soon Megan Sioe Fei, Lee Colin Yc, Tuong Zewen Kelvin

机构信息

Ian Frazer Centre for Children's Immunotherapy Research, Child Health Research Centre, Faculty of Health, Medicine and Behavioural Sciences The University of Queensland Brisbane QLD Australia.

School of Clinical Medicine University of Cambridge Cambridge UK.

出版信息

Clin Transl Immunology. 2025 May 23;14(5):e70033. doi: 10.1002/cti2.70033. eCollection 2025 May.

Abstract

Single-cell RNA sequencing (scRNA-seq) is a powerful tool for investigating paediatric cancers, but individual studies often profile a small number of individuals. It is now the standard practice to upload the scRNA-seq data to data repositories to support scientific reproducibility. Public data deposition is a cost-effective and sustainability-conscious solution that allows any researcher to download and analyse existing scRNA-seq data to develop new ideas. This is incredibly valuable, especially in the context of paediatric cancer research, where access to funding and to patient cohorts may be prohibitive. However, standards for data deposition are absent, leading to significant issues that may slow progress. As a consequence, it is difficult, even impossible, for other researchers to validate findings or utilise these data for tailored analyses. Here, we systematically accessed and reviewed publicly available scRNA-seq data sets from various paediatric cancer studies, covering over 1.3 million cells across 488 clinical samples. We highlight striking inconsistencies with study design and data availability across several levels, which hinder downstream analyses and data reproducibility. To address these challenges, we propose a recommendations framework to improve data deposition practices that promote more effective use of scRNA-seq data sets deposited on public repositories and accelerate discoveries in paediatric cancer research and beyond. We urge data standards institutes and repositories, such as NCBI Gene Expression Omnibus (GEO) and European Genome-Phenome Archive (EGA), to strictly enforce these standardised data practices.

摘要

单细胞RNA测序(scRNA-seq)是研究儿童癌症的有力工具,但个别研究通常仅对少数个体进行分析。目前的标准做法是将scRNA-seq数据上传到数据存储库,以支持科学的可重复性。公开数据存贮是一种经济高效且具有可持续发展意识的解决方案,它允许任何研究人员下载和分析现有的scRNA-seq数据,以产生新的想法。这具有难以置信的价值,尤其是在儿童癌症研究中,因为获得资金和患者队列可能受到限制。然而,目前缺乏数据存贮标准,这导致了可能会阻碍进展的重大问题。因此,其他研究人员很难甚至无法验证研究结果或利用这些数据进行针对性分析。在这里,我们系统地访问和审查了来自各种儿童癌症研究的公开可用的scRNA-seq数据集,涵盖了488个临床样本中的130多万个细胞。我们强调了在几个层面上研究设计和数据可用性方面存在的显著不一致,这阻碍了下游分析和数据的可重复性。为应对这些挑战,我们提出了一个建议框架,以改进数据存贮做法,促进更有效地利用存放在公共存储库中的scRNA-seq数据集,并加速儿童癌症研究及其他领域的发现。我们敦促数据标准机构和存储库,如美国国立生物技术信息中心基因表达综合数据库(NCBI GEO)和欧洲基因组-表型档案库(EGA),严格执行这些标准化的数据做法。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/3b1f/12101384/fe67e4fcc48b/CTI2-14-e70033-g002.jpg

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