定义人类mRNAs和lncRNAs的单碱基重要性。

IF 6.8 2区 生物学 Q1 BIOCHEMICAL RESEARCH METHODS Briefings in bioinformatics Pub Date : 2023-09-20 DOI:10.1093/bib/bbad321
Rui Fan, Xiangwen Ji, Jianwei Li, Qinghua Cui, Chunmei Cui
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引用次数: 0

摘要

核苷酸作为基因及其转录物的基本单位,对基因功能和进化,进而对表型和疾病有着巨大的影响。为了识别一个特定基因的关键核苷酸,定量测量基因上每个碱基的重要性是非常关键的。然而,仍然没有基于序列的方法来做到这一点。在这里,我们提出了碱基重要性计算器(BIC),这是一种基于人类mRNA和长非编码RNA(lncRNA)的序列信息计算每个碱基的重要性得分的算法。然后,我们通过将BIC应用于三个不同的任务来确认它的威力。首先,我们发现BIC可以通过单核苷酸变异有效地评估基因和单个碱基的致病性。此外,癌症基因组图谱体细胞突变中的BIC评分能够预测某些癌症的预后。最后,我们证明BIC也可以准确预测严重急性呼吸系统综合征冠状病毒2型的传播性。上述结果表明,BIC是评估人类mRNA和lncRNA的单碱基重要性的有用工具。
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Defining the single base importance of human mRNAs and lncRNAs.

As the fundamental unit of a gene and its transcripts, nucleotides have enormous impacts on the gene function and evolution, and thus on phenotypes and diseases. In order to identify the key nucleotides of one specific gene, it is quite crucial to quantitatively measure the importance of each base on the gene. However, there are still no sequence-based methods of doing that. Here, we proposed Base Importance Calculator (BIC), an algorithm to calculate the importance score of each single base based on sequence information of human mRNAs and long noncoding RNAs (lncRNAs). We then confirmed its power by applying BIC to three different tasks. Firstly, we revealed that BIC can effectively evaluate the pathogenicity of both genes and single bases through single nucleotide variations. Moreover, the BIC score in The Cancer Genome Atlas somatic mutations is able to predict the prognosis of some cancers. Finally, we show that BIC can also precisely predict the transmissibility of SARS-CoV-2. The above results indicate that BIC is a useful tool for evaluating the single base importance of human mRNAs and lncRNAs.

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来源期刊
Briefings in bioinformatics
Briefings in bioinformatics 生物-生化研究方法
CiteScore
13.20
自引率
13.70%
发文量
549
审稿时长
6 months
期刊介绍: Briefings in Bioinformatics is an international journal serving as a platform for researchers and educators in the life sciences. It also appeals to mathematicians, statisticians, and computer scientists applying their expertise to biological challenges. The journal focuses on reviews tailored for users of databases and analytical tools in contemporary genetics, molecular and systems biology. It stands out by offering practical assistance and guidance to non-specialists in computerized methodologies. Covering a wide range from introductory concepts to specific protocols and analyses, the papers address bacterial, plant, fungal, animal, and human data. The journal's detailed subject areas include genetic studies of phenotypes and genotypes, mapping, DNA sequencing, expression profiling, gene expression studies, microarrays, alignment methods, protein profiles and HMMs, lipids, metabolic and signaling pathways, structure determination and function prediction, phylogenetic studies, and education and training.
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