Abstract
The precision and personalized medicine is declared as the next revolutionary paradigm in the current health outlook. With this assumption, many challenges must be faced to achieve that paradigm shift. One of these important challenges is the creation and development of tools with the capability of exploiting biological data to infer or extract new and relevant knowledge. In this sense, these tools must fulfill a set of requirements such as scalability, security and a user-friendly design. That is the way to change the users scope from technicians to all type of researchers, physicians and other non-technical users. Along this article, a review of several gene expression analysis tools has been addressed, with the aim of studying their pros and cons. Then, two different implementations are proposed taking into account the current state of KnowSeq R/Bioc package, with the purpose of showing different use cases to migrate one concrete tool to a web application.
Access this chapter
Tax calculation will be finalised at checkout
Purchases are for personal use only
References
Anaconda: The world’s most popular data science platform. https://www.anaconda.com/
Anders, S., Pyl, P.T., Huber, W.: HTSeq-a python framework to work with high-throughput sequencing data. Bioinformatics 31(2), 166–169 (2015)
Beauchemin, M., Murray, M.T., Sung, L., Hershman, D.L., Weng, C., Schnall, R.: Clinical decision support for therapeutic decision-making in cancer: a systematic review. Int. J. Med. Inform. 130, 103940 (2019)
Castillo-Secilla, D., et al.: KnowSeq R-Bioc package: the automatic smart gene expression tool for retrieving relevant biological knowledge. Comput. Biol. Med. 133, 104387 (2021)
Chang, W., et al.: Shiny: Web Application Framework for R (2021). https://CRAN.R-project.org/package=shiny, R package version 1.7.1
Chao, K.H., et al.: RNASeqR: an R package for automated two-group RNA-Seq analysis workflow. IEEE/ACM Trans. Comput. Biol. Bioinform. 18, 2023–2031 (2019)
Colaprico, A., et al.: TCGAbiolinks: an R/Bioconductor package for integrative analysis of TCGA data. Nucl. Acids Res. 44(8), e71–e71 (2016)
Cornwell, M., et al.: VIPER: visualization pipeline for RNA-Seq, a snakemake workflow for efficient and complete RNA-Seq analysis. BMC Bioinform. 19(1), 1–14 (2018)
D’Antonio, M., et al.: RAP: RNA-Seq analysis pipeline, a new cloud-based NGS web application. BMC Genom. 16(6), 1–11 (2015)
Domenech, A.M., Guillén, A.: ml-experiment: a python framework for reproducible data science. J. Phys. Conf. Ser. 1603(1), 012025 (2020). https://doi.org/10.1088/1742-6596/1603/1/012025
Gentleman, R.C., et al.: Bioconductor: open software development for computational biology and bioinformatics. Genome Biol. 5(10), 1–16 (2004)
Gómez-López, G., Dopazo, J., Cigudosa, J.C., Valencia, A., Al-Shahrour, F.: Precision medicine needs pioneering clinical bioinformaticians. Brief. Bioinform. 20(3), 752–766 (2019)
Howe, E.A., Sinha, R., Schlauch, D., Quackenbush, J.: RNA-Seq analysis in MeV. Bioinformatics 27(22), 3209–3210 (2011)
Huang, G., et al.: ARMT: an automatic RNA-Seq data mining tool based on comprehensive and integrative analysis in cancer research. Comput. Struct. Biotechnol. J. 19, 4426–4434 (2021)
Johnson, B.K., Scholz, M.B., Teal, T.K., Abramovitch, R.B.: Sparta: simple program for automated reference-based bacterial RNA-Seq transcriptome analysis. BMC Bioinform. 17(1), 1–4 (2016)
Kim, D., Langmead, B., Salzberg, S.L.: HiSAT: a fast spliced aligner with low memory requirements. Nat. Methods 12(4), 357–360 (2015)
Kim, D., Pertea, G., Trapnell, C., Pimentel, H., Kelley, R., Salzberg, S.L.: TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions. Genome Biol. 14(4), 1–13 (2013)
Köster, J., Rahmann, S.: Snakemake-a scalable bioinformatics workflow engine. Bioinformatics 28(19), 2520–2522 (2012)
Langmead, B., Hansen, K.D., Leek, J.T.: Cloud-scale RNA-sequencing differential expression analysis with Myrna. Genome Biol. 11(8), 1–11 (2010)
Law, C.W., et al.: RNA-Seq analysis is easy as 1-2-3 with limma, Glimma and edgeR. F1000Research, vol. 5 (2016)
Lohse, M., et al.: Robina: a user-friendly, integrated software solution for RNA-Seq-based transcriptomics. Nucl. Acids Res. 40(W1), W622–W627 (2012)
López-Fernández, H., Blanco-Míguez, A., Fdez-Riverola, F., Sánchez, B., Lourenço, A.: DEWE: a novel tool for executing differential expression RNA-Seq workflows in biomedical research. Comput. Biol. Med. 107, 197–205 (2019)
Powell., D.R.: Degust: interactive RNA-Seq analysis. https://doi.org/10.5281/zenodo.3258932
SASC Team, L.U.M.C.: BioWDL: a collection of WDL pipelines for sequencing analyses. https://biowdl.github.io/
Schloerke, B., Allen, J.: Plumber: an API Generator for R (2022). https://www.rplumber.io, https://github.com/rstudio/plumber
Seelbinder, B., et al.: Geo2RNASeq: an easy-to-use r pipeline for complete pre-processing of RNA-Seq data. BioRxiv, p. 771063 (2019)
Varet, H., Brillet-Guéguen, L., Coppée, J.Y., Dillies, M.A.: SARTools: a DESeq2-and edgeR-based R pipeline for comprehensive differential analysis of RNA-Seq data. PloS ONE 11(6), e0157022 (2016)
Wang, D.: hppRNA-a snakemake-based handy parameter-free pipeline for RNA-Seq analysis of numerous samples. Brief. Bioinform. 19(4), 622–626 (2018)
Wang, Y., et al.: Rseqflow: workflows for RNA-Seq data analysis. Bioinformatics 27(18), 2598–2600 (2011)
Wang, Z., Ma’ayan, A.: An open RNA-Seq data analysis pipeline tutorial with an example of reprocessing data from a recent zika virus study. F1000Research 5, 1574 (2016)
Zhang, Z.H., Wray, N.R., Zhao, Q.Y.: Dear-O: differential expression analysis based on RNA-Seq data-online. BioRxiv, p. 069807 (2016)
Acknowledgements
This work was funded by the Spanish Ministry of Sciences, Innovation and Universities under Project RTI2018-101674-B-I00 titled “Computer Architectures and Machine Learning- based solutions for complex challenges in Bioinformatics, Biotechnology and Biomedicine”, in collaboration with the Government of Andalusia under the projects P20_00163 and CV20-64934. The funders had no role in the study design, data collection and analysis, decision to publish, or preparation of this manuscript.
Author information
Authors and Affiliations
Corresponding author
Editor information
Editors and Affiliations
Rights and permissions
Copyright information
© 2022 Springer Nature Switzerland AG
About this paper
Cite this paper
Castillo-Secilla, D., Redondo-Sánchez, D., Herrera, L.J., Rojas, I., Guillén, A. (2022). Gene Expression Tools from a Technical Perspective: Current Approaches and Alternative Solutions for the KnowSeq Suite. In: Rojas, I., Valenzuela, O., Rojas, F., Herrera, L.J., Ortuño, F. (eds) Bioinformatics and Biomedical Engineering. IWBBIO 2022. Lecture Notes in Computer Science(), vol 13346. Springer, Cham. https://doi.org/10.1007/978-3-031-07704-3_33
Download citation
DOI: https://doi.org/10.1007/978-3-031-07704-3_33
Published:
Publisher Name: Springer, Cham
Print ISBN: 978-3-031-07703-6
Online ISBN: 978-3-031-07704-3
eBook Packages: Computer ScienceComputer Science (R0)