Genomics, proteomics & bioinformatics最新文献

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RNA Modifications and Epitranscriptomics. RNA修饰和上皮转录组学。
Genomics, proteomics & bioinformatics Pub Date : 2023-08-01 Epub Date: 2023-10-19 DOI: 10.1016/j.gpb.2023.10.002
Chengqi Yi, Jianhua Yang
{"title":"RNA Modifications and Epitranscriptomics.","authors":"Chengqi Yi, Jianhua Yang","doi":"10.1016/j.gpb.2023.10.002","DOIUrl":"10.1016/j.gpb.2023.10.002","url":null,"abstract":"","PeriodicalId":94020,"journal":{"name":"Genomics, proteomics & bioinformatics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10787112/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"49686556","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
Characteristics of N6-methyladenosine Modification During Sexual Reproduction of Chlamydomonas reinhardtii. 莱茵衣藻有性生殖过程中n6 -甲基腺苷修饰的特征。
Genomics, proteomics & bioinformatics Pub Date : 2023-08-01 Epub Date: 2022-05-10 DOI: 10.1016/j.gpb.2022.04.004
Ying Lv, Fei Han, Mengxia Liu, Ting Zhang, Guanshen Cui, Jiaojiao Wang, Ying Yang, Yun-Gui Yang, Wenqiang Yang
{"title":"Characteristics of N<sup>6</sup>-methyladenosine Modification During Sexual Reproduction of Chlamydomonas reinhardtii.","authors":"Ying Lv, Fei Han, Mengxia Liu, Ting Zhang, Guanshen Cui, Jiaojiao Wang, Ying Yang, Yun-Gui Yang, Wenqiang Yang","doi":"10.1016/j.gpb.2022.04.004","DOIUrl":"10.1016/j.gpb.2022.04.004","url":null,"abstract":"<p><p>The unicellular green alga Chlamydomonas reinhardtii (hereafter Chlamydomonas) possesses both plant and animal attributes, and it is an ideal model organism for studying fundamental processes such as photosynthesis, sexual reproduction, and life cycle. N<sup>6</sup>-methyladenosine (m<sup>6</sup>A) is the most prevalent mRNA modification, and it plays important roles during sexual reproduction in animals and plants. However, the pattern and function of m<sup>6</sup>A modification during the sexual reproduction of Chlamydomonas remain unknown. Here, we performed transcriptome and methylated RNA immunoprecipitation sequencing (MeRIP-seq) analyses on six samples from different stages during sexual reproduction of the Chlamydomonas life cycle. The results show that m<sup>6</sup>A modification frequently occurs at the main motif of DRAC (D = G/A/U, R = A/G) in Chlamydomonas mRNAs. Moreover, m<sup>6</sup>A peaks in Chlamydomonas mRNAs are mainly enriched in the 3' untranslated regions (3'UTRs) and negatively correlated with the abundance of transcripts at each stage. In particular, there is a significant negative correlation between the expression levels and the m<sup>6</sup>A levels of genes involved in the microtubule-associated pathway, indicating that m<sup>6</sup>A modification influences the sexual reproduction and the life cycle of Chlamydomonas by regulating microtubule-based movement. In summary, our findings are the first to demonstrate the distribution and the functions of m<sup>6</sup>A modification in Chlamydomonas mRNAs and provide new evolutionary insights into m<sup>6</sup>A modification in the process of sexual reproduction in other plant organisms.</p>","PeriodicalId":94020,"journal":{"name":"Genomics, proteomics & bioinformatics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10787120/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"138453356","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 0
mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants mvPPT:一种高效灵敏的错义变异致病性预测工具
Genomics, proteomics & bioinformatics Pub Date : 2022-01-06 DOI: 10.1101/2022.01.05.475156
S. Tong, Ke Fan, Zai-wei Zhou, Lin-Yun Liu, Shu-Qing Zhang, Yinghui Fu, Guangchao Wang, Ying Zhu, Yong-Chun Yu
{"title":"mvPPT: A Highly Efficient and Sensitive Pathogenicity Prediction Tool for Missense Variants","authors":"S. Tong, Ke Fan, Zai-wei Zhou, Lin-Yun Liu, Shu-Qing Zhang, Yinghui Fu, Guangchao Wang, Ying Zhu, Yong-Chun Yu","doi":"10.1101/2022.01.05.475156","DOIUrl":"https://doi.org/10.1101/2022.01.05.475156","url":null,"abstract":"Next generation sequencing technologies both boost the discovery of variants in the human genome and exacerbate the challenges of pathogenic variant identification. In this study, we developed mvPPT (Pathogenicity Prediction Tool for missense variants), a highly sensitive and accurate missense variant classifier based on gradient boosting. MvPPT adopts high-confidence training sets with a wide spectrum of variant profiles, and extracts three categories of features, including scores from existing prediction tools, allele, amino acid and genotype frequencies, and genomic context. Compared with established predictors, mvPPT achieved superior performance in all test sets, regardless of data source. In addition, our study also provides guidance for training set and feature selection strategies, as well as reveals highly relevant features, which may further provide biological insights of variant pathogenicity.","PeriodicalId":94020,"journal":{"name":"Genomics, proteomics & bioinformatics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2022-01-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"87455127","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
deCS: A Tool for Systematic Cell Type Annotations of Single-cell RNA Sequencing Data among Human Tissues deCS:人体组织中单细胞RNA测序数据的系统细胞类型注释工具
Genomics, proteomics & bioinformatics Pub Date : 2021-09-22 DOI: 10.1101/2021.09.19.460993
Guangsheng Pei, F. Yan, L. Simon, Yulin Dai, P. Jia, Zhongming Zhao
{"title":"deCS: A Tool for Systematic Cell Type Annotations of Single-cell RNA Sequencing Data among Human Tissues","authors":"Guangsheng Pei, F. Yan, L. Simon, Yulin Dai, P. Jia, Zhongming Zhao","doi":"10.1101/2021.09.19.460993","DOIUrl":"https://doi.org/10.1101/2021.09.19.460993","url":null,"abstract":"Single-cell RNA sequencing (scRNA-seq) is revolutionizing the study of complex and dynamic cellular mechanisms. However, cell-type annotation remains a main challenge as it largely relies on a priori knowledge and manual curation, which is cumbersome and less accurate. The increasing number of scRNA-seq data sets, as well as numerous published genetic studies, motivated us to build a comprehensive human cell type reference atlas. Here, we present deCS (decoding Cell type-Specificity), an automatic cell type annotation method augmented by a comprehensive collection of human cell type expression profiles and marker genes. We used deCS to annotate scRNA-seq data from various tissue types and systematically evaluated the annotation accuracy under different conditions, including reference panels, sequencing depth and feature selection strategies. Our results demonstrated that expanding the references is critical for improving annotation accuracy. Compared to many existing state-of-the-art annotation tools, deCS significantly reduced computation time and increased accuracy. deCS can be integrated into the standard scRNA-seq analytical pipeline to enhance cell type annotation. Finally, we demonstrated the broad utility of deCS to identify trait-cell type associations in 51 human complex traits, providing deeper insights into the cellular mechanisms of disease pathogenesis. All documents, including source code, user manual, demo data, and tutorials, are freely available at https://github.com/bsml320/deCS.","PeriodicalId":94020,"journal":{"name":"Genomics, proteomics & bioinformatics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-09-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"86778324","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 12
RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants RegVar:非编码调控变异的组织特异性优先级
Genomics, proteomics & bioinformatics Pub Date : 2021-04-19 DOI: 10.1101/2021.04.17.440295
Hao Lu, Luyu Ma, Cheng Quan, Lei Li, Yiming Lu, Gangqiao Zhou, Chenggang Zhang
{"title":"RegVar: Tissue-specific Prioritization of Non-coding Regulatory Variants","authors":"Hao Lu, Luyu Ma, Cheng Quan, Lei Li, Yiming Lu, Gangqiao Zhou, Chenggang Zhang","doi":"10.1101/2021.04.17.440295","DOIUrl":"https://doi.org/10.1101/2021.04.17.440295","url":null,"abstract":"Noncoding genomic variants constitute the majority of trait-associated genome variations; however, identification of functional noncoding variants is still a challenge in human genetics, and a method systematically assessing the impact of regulatory variants on gene expression and linking them to potential target genes is still lacking. Here we introduce a deep neural network (DNN)-based computational framework, RegVar, that can accurately predict the tissue-specific impact of noncoding regulatory variants on target genes. We show that, by robustly learning the genomic characteristics of massive variant-gene expression associations in a variety of human tissues, RegVar vastly surpasses all current noncoding variants prioritization methods in predicting regulatory variants under different circumstances. The unique features of RegVar make it an excellent framework for assessing the regulatory impact of any variant on its putative target genes in a variety of tissues. RegVar is available as a webserver at http://regvar.cbportal.org/.","PeriodicalId":94020,"journal":{"name":"Genomics, proteomics & bioinformatics","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2021-04-19","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"91145552","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
引用次数: 1
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