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元研究:在全基因组检测与结果报告之间存在漏洞的流程中,未得到充分研究的基因被遗漏了。

Meta-Research: understudied genes are lost in a leaky pipeline between genome-wide assays and reporting of results.

作者信息

Richardson Reese Ak, Tejedor Navarro Heliodoro, Amaral Luis A Nunes, Stoeger Thomas

机构信息

Interdisciplinary Biological Sciences, Northwestern University.

Department of Chemical and Biological Engineering, Northwestern University.

出版信息

bioRxiv. 2024 Feb 5:2023.02.28.530483. doi: 10.1101/2023.02.28.530483.

Abstract

Present-day publications on human genes primarily feature genes that already appeared in many publications prior to completion of the Human Genome Project in 2003. These patterns persist despite the subsequent adoption of high-throughput technologies, which routinely identify novel genes associated with biological processes and disease. Although several hypotheses for bias in the selection of genes as research targets have been proposed, their explanatory powers have not yet been compared. Our analysis suggests that understudied genes are systematically abandoned in favor of better-studied genes between the completion of -omics experiments and the reporting of results. Understudied genes remain abandoned by studies that cite these -omics experiments. Conversely, we find that publications on understudied genes may even accrue a greater number of citations. Among 45 biological and experimental factors previously proposed to affect which genes are being studied, we find that 33 are significantly associated with the choice of hit genes presented in titles and abstracts of - omics studies. To promote the investigation of understudied genes we condense our insights into a tool, (FMUG), that allows scientists to engage with potential bias during the selection of hits. We demonstrate the utility of FMUG through the identification of genes that remain understudied in vertebrate aging. FMUG is developed in Flutter and is available for download at fmug.amaral.northwestern.edu as a MacOS/Windows app.

摘要

当前关于人类基因的出版物主要聚焦于那些在2003年人类基因组计划完成之前就已在众多出版物中出现的基因。尽管随后采用了高通量技术,这些技术常规性地鉴定出与生物过程和疾病相关的新基因,但这种模式依然存在。虽然已经提出了几种关于基因选择作为研究靶点存在偏差的假设,但它们的解释力尚未得到比较。我们的分析表明,在组学实验完成到结果报告之间,研究不足的基因被系统性地舍弃,转而青睐研究得更充分的基因。引用这些组学实验的研究也不再关注研究不足的基因。相反,我们发现关于研究不足基因的出版物甚至可能获得更多的引用。在先前提出的45个影响基因研究的生物学和实验因素中,我们发现有33个与组学研究标题和摘要中呈现的命中基因的选择显著相关。为了促进对研究不足基因的研究,我们将见解浓缩成一个工具,即被忽视基因的优先排序工具(FMUG),它能让科学家在选择命中基因时应对潜在偏差。我们通过识别在脊椎动物衰老研究中仍未得到充分研究的基因来展示FMUG的效用。FMUG是用Flutter开发的,可在fmug.amaral.northwestern.edu上作为MacOS/Windows应用程序下载。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a185/10851975/5210d144eeed/nihpp-2023.02.28.530483v3-f0001.jpg

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