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帮助:一种用于标记和预测人类普遍和特定情境必需基因的计算框架。

HELP: A computational framework for labelling and predicting human common and context-specific essential genes.

机构信息

Institute for High-Performance Computing and Networking, National Research Council, Naples, Italy.

Information Technology Services, University of Naples "L'Orientale", Naples, Italy.

出版信息

PLoS Comput Biol. 2024 Sep 27;20(9):e1012076. doi: 10.1371/journal.pcbi.1012076. eCollection 2024 Sep.

DOI:10.1371/journal.pcbi.1012076
PMID:39331694
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11463781/
Abstract

Machine learning-based approaches are particularly suitable for identifying essential genes as they allow the generation of predictive models trained on features from multi-source data. Gene essentiality is neither binary nor static but determined by the context. The databases for essential gene annotation do not permit the personalisation of the context, and their update can be slower than the publication of new experimental data. We propose HELP (Human Gene Essentiality Labelling & Prediction), a computational framework for labelling and predicting essential genes. Its double scope allows for identifying genes based on dependency or not on experimental data. The effectiveness of the labelling method was demonstrated by comparing it with other approaches in overlapping the reference sets of essential gene annotations, where HELP demonstrated the best compromise between false and true positive rates. The gene attributes, including multi-omics and network embedding features, lead to high-performance prediction of essential genes while confirming the existence of essentiality nuances.

摘要

基于机器学习的方法特别适合识别必需基因,因为它们可以生成基于多源数据特征训练的预测模型。基因的必需性既不是二进制的,也不是静态的,而是由上下文决定的。必需基因注释数据库不允许个性化上下文,并且它们的更新速度可能比新实验数据的发布速度慢。我们提出了 HELP(人类基因必需性标记和预测),这是一个用于标记和预测必需基因的计算框架。其双重范围允许根据实验数据确定基因的依赖性或非依赖性。通过将其与其他方法在必需基因注释的参考集中进行比较,证明了标记方法的有效性,其中 HELP 在假阳性率和真阳性率之间表现出最佳折衷。基因属性,包括多组学和网络嵌入特征,在确认必需性细微差别的同时,实现了对必需基因的高性能预测。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/66230b4ab6c0/pcbi.1012076.g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/0bcd8008cfe5/pcbi.1012076.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/e4d4d9554a1d/pcbi.1012076.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/06a37ba1fc5a/pcbi.1012076.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/b434ae91d7af/pcbi.1012076.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/6f3e03aa703b/pcbi.1012076.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/08e34f890d5d/pcbi.1012076.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/42551a0170c6/pcbi.1012076.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/86655e706cf3/pcbi.1012076.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/66230b4ab6c0/pcbi.1012076.g009.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/0bcd8008cfe5/pcbi.1012076.g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/e4d4d9554a1d/pcbi.1012076.g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/06a37ba1fc5a/pcbi.1012076.g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/b434ae91d7af/pcbi.1012076.g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/6f3e03aa703b/pcbi.1012076.g005.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/08e34f890d5d/pcbi.1012076.g006.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/42551a0170c6/pcbi.1012076.g007.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/86655e706cf3/pcbi.1012076.g008.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/4af1/11463781/66230b4ab6c0/pcbi.1012076.g009.jpg

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本文引用的文献

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Untangling the Context-Specificity of Essential Genes by Means of Machine Learning: A Constructive Experience.通过机器学习理清必需基因的语境特异性:一种建设性的经验。
Biomolecules. 2023 Dec 22;14(1):18. doi: 10.3390/biom14010018.
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Class imbalance should not throw you off balance: Choosing the right classifiers and performance metrics for brain decoding with imbalanced data.不要被类别不平衡问题困扰:选择合适的分类器和性能指标,对不平衡数据进行脑解码。
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The STRING database in 2023: protein-protein association networks and functional enrichment analyses for any sequenced genome of interest.
2023 年的 STRING 数据库:针对任何感兴趣的测序基因组的蛋白质-蛋白质关联网络和功能富集分析。
Nucleic Acids Res. 2023 Jan 6;51(D1):D638-D646. doi: 10.1093/nar/gkac1000.
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Database resources of the National Center for Biotechnology Information in 2023.2023 年国立生物技术信息中心的数据库资源。
Nucleic Acids Res. 2023 Jan 6;51(D1):D29-D38. doi: 10.1093/nar/gkac1032.
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CRISPR/Cas9 a simple, inexpensive and effective technique for gene editing.CRISPR/Cas9 是一种简单、廉价且有效的基因编辑技术。
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Nuclear and Cytoplasmatic Players in Mitochondria-Related CNS Disorders: Chromatin Modifications and Subcellular Trafficking.线粒体相关中枢神经系统疾病中的细胞核和细胞质作用因子:染色质修饰与亚细胞运输
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DAVID: a web server for functional enrichment analysis and functional annotation of gene lists (2021 update).DAVID:一个用于基因列表功能富集分析和功能注释的网络服务器(2021 更新)。
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