Os avanços e desafios da bioinformática aplicada à saúde: uma revisão

Ruana Carolina Cabral da Silva; Maria Cidinaria Silva Alves

doi:10.48017/dj.v9i3.2910

Authors

Ruana Carolina Cabral da Silva Federal University of Ouro Preto, Minas Gerais, Brazil https://orcid.org/0000-0003-0435-1871
Maria Cidinaria Silva Alves Universidade Federal de Pernambuco; Recife, Pernambuco, Brazil https://orcid.org/0000-0003-0625-416X

DOI:

https://doi.org/10.48017/dj.v9i3.2910

Keywords:

Computational tools, clinical practice, application

Abstract

The objective of this review was to discuss recent advancements and challenges encountered in the application of bioinformatics to health issues. To achieve this, a comprehensive literature review was conducted to explore pertinent topics, such as the fundamentals of bioinformatics and its impact on the healthcare sphere, the primary contributions of omics approaches (genomics, proteomics, transcriptomics, among others) to understanding health, as well as the significant role of bioinformatics in biomedical research and clinical practice. It is important to emphasize that bioinformatics, as an interdisciplinary field integrating biology, computer science, and informatics, plays an increasingly crucial role in deciphering complex data associated with human health. The information and findings outlined in this article underscore that bioinformatics remains a fundamental component in improving health and advancing medicine. However, considering the continuous evolution of technologies and tools, fostering collaboration among researchers, healthcare professionals, and industry is pivotal to establish standards and approaches enabling the ethical and effective utilization of this data in clinical practice. This collaboration is essential to develop robust systems, ensure data security, and standardize analysis methods, providing significant benefits for both public and individual health.

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Author Biographies

Ruana Carolina Cabral da Silva, Federal University of Ouro Preto, Minas Gerais, Brazil

0000-0003-0435-1871; Federal University of Ouro Preto. Ouro Preto-MG, Brazil. E-mail: ruana.silva@ufop.edu.br

Maria Cidinaria Silva Alves, Universidade Federal de Pernambuco; Recife, Pernambuco, Brazil

0000-0003-0625-416X; Federal University of Pernambuco, Recife-PE, Brazil. E-mail: cidinaria.alves@ufpe.br.

References

Al Kawam, A., Sen, A., Datta, A., & Dickey, N. (2018). Understanding the Bioinformatics Challenges of Integrating Genomics into Healthcare. IEEE Journal of Biomedical and Health Informatics, 22(5), 1672–1683. https://doi.org/10.1109/JBHI.2017.2778263

Araújo, N.D., Farias, R.P., Pereira, P.B., Figueirêdo, F.M., Morais, A.M.B., Saldanha, L.C. & Gabriel, J.E.A. (2008). Era da Bioinformática: seu potencial e suas implicações para as ciências da saúde. Estudos de Biologia, v. 30, n. 70/72, 27:143-8.

Bertrand, D., Chng, K. R., Sherbaf, F. G., Kiesel, A., Chia, B. K. H., Sia, Y. Y., Huang, S. K., Hoon, D. S. B., Liu, E. T., Hillmer, A., & Nagarajan, N. (2015). Patient-specific driver gene prediction and risk assessment through integrated network analysis of cancer omics profiles. Nucleic Acids Research, 43(7), e44. https://doi.org/10.1093/nar/gku1393

Bulaklak, K., & Gersbach, C. A. (2020). The once and future gene therapy. Nature Communications, 11(1), Artigo 1. https://doi.org/10.1038/s41467-020-19505-2

Cattley, S., & Arthur, J. W. (2007). BioManager: The use of a bioinformatics web application as a teaching tool in undergraduate bioinformatics training. Briefings in Bioinformatics, 8(6), 457–465. https://doi.org/10.1093/bib/bbm039

Espindola, F. S., Calábria, L. K., Rezende, A. A. A. de, Pereira, B. B., Santana, F. A., Amaral, I. M. R., Lobato, J., França, J. L., Mario, J. L., Figueiredo, L. B., Santos, L. P. dos, Gouveia, N. M. de, Nascimento, R., Teixeira, R. R., Reis, T. A. dos, & Araújo, T. G. de. (2010). Recursos de bioinformática aplicados às ciências ômicas como genômica, transcriptômica, proteômica, interatômica e metabolômica. Bioscience Journal, 26(3), Artigo 3.

Fernald, G. H., Capriotti, E., Daneshjou, R., Karczewski, K. J., & Altman, R. B. (2011). Bioinformatics challenges for personalized medicine. Bioinformatics (Oxford, England), 27(13), 1741–1748. https://doi.org/10.1093/bioinformatics/btr295

Gauthier, J., Vincent, A. T., Charette, S. J., & Derome, N. (2019). A brief history of bioinformatics. Briefings in Bioinformatics, 20(6), 1981–1996. https://doi.org/10.1093/bib/bby063

Gómez-López, G., Dopazo, J., Cigudosa, J. C., Valencia, A., & Al-Shahrour, F. (2019). Precision medicine needs pioneering clinical bioinformaticians. Briefings in Bioinformatics, 20(3), 752–766. https://doi.org/10.1093/bib/bbx144

Guido, R. V. C., Andricopulo, A. D., & Oliva, G. (2010). Planejamento de fármacos, biotecnologia e química medicinal: Aplicações em doenças infecciosas. Estudos Avançados, 24, 81–98. https://doi.org/10.1590/S0103-40142010000300006

Haworth, A., Savage, H., & Lench, N. (2016). Chapter 4—Diagnostic Genomics and Clinical Bioinformatics. Em D. Kumar & S. Antonarakis (Orgs.), Medical and Health Genomics (p. 37–50). Academic Press. https://doi.org/10.1016/B978-0-12-420196-5.00004-6

Hogeweg, P. (2011). The Roots of Bioinformatics in Theoretical Biology. PLOS Computational Biology, 7(3), e1002021. https://doi.org/10.1371/journal.pcbi.1002021

James, P. (1997). Protein identification in the post-genome era: The rapid rise of proteomics. Quarterly Reviews of Biophysics, 30(4), 279–331. https://doi.org/10.1017/S0033583597003399

Júnior, L., & Carlos, L. (2021). A era da medicina de precisão e o impacto na enfermagem: Mudanças de paradigmas? Revista Brasileira de Enfermagem, 74, e740501. https://doi.org/10.1590/0034-7167.2021740501

Kanzi, A. M., San, J. E., Chimukangara, B., Wilkinson, E., Fish, M., Ramsuran, V., & de Oliveira, T. (2020). Next Generation Sequencing and Bioinformatics Analysis of Family Genetic Inheritance. Frontiers in Genetics, 11, 544162. https://doi.org/10.3389/fgene.2020.544162

Khoury, G. A., Baliban, R. C., & Floudas, C. A. (2011). Proteome-wide post-translational modification statistics: Frequency analysis and curation of the swiss-prot database. Scientific Reports, 1(1), Artigo 1. https://doi.org/10.1038/srep00090

Li, Y., Huang, C., Ding, L., Li, Z., Pan, Y., & Gao, X. (2019). Deep learning in bioinformatics: Introduction, application, and perspective in big data era (arXiv:1903.00342). arXiv. https://doi.org/10.48550/arXiv.1903.00342

Luscombe, N. M.; Greenbaum, D.; Gerstein, M. Review What is bioinformatics? An introduction and overview. Gene Expression, v. 40, n. 5, p. 83100, jan. 2001.

Merelli, I., Pérez-Sánchez, H., Gesing, S., & D’Agostino, D. (2014). Managing, analysing, and integrating big data in medical bioinformatics: Open problems and future perspectives. BioMed Research International, 2014, 134023. https://doi.org/10.1155/2014/134023

Mortazavi, A., Williams, B. A., McCue, K., Schaeffer, L., & Wold, B. (2008). Mapping and quantifying mammalian transcriptomes by RNA-Seq. Nature Methods, 5(7), Artigo 7. https://doi.org/10.1038/nmeth.1226

Mosa, K. A., Ismail, A., & Helmy, M. (2017). Omics and System Biology Approaches in Plant Stress Research. Em K. A. Mosa, A. Ismail, & M. Helmy (Orgs.), Plant Stress Tolerance: An Integrated Omics Approach (p. 21–34). Springer International Publishing. https://doi.org/10.1007/978-3-319-59379-1_2

Mulder, N. J., Adebiyi, E., Adebiyi, M., Adeyemi, S., Ahmed, A., Ahmed, R., Akanle, B., Alibi, M., Armstrong, D. L., Aron, S., Ashano, E., Baichoo, S., Benkahla, A., Brown, D. K., Chimusa, E. R., Fadlelmola, F. M., Falola, D., Fatumo, S., Ghedira, K., … H3ABioNet Consortium, as members of the H3Africa Consortium. (2017). Development of Bioinformatics Infrastructure for Genomics Research. Global Heart, 12(2), 91–98. https://doi.org/10.1016/j.gheart.2017.01.005

Nicholson, J. K., Lindon, J. C., & Holmes, E. (1999). “Metabonomics”: Understanding the metabolic responses of living systems to pathophysiological stimuli via multivariate statistical analysis of biological NMR spectroscopic data. Xenobiotica, 29(11), 1181–1189. https://doi.org/10.1080/004982599238047

Orlov, Y. L., Anashkina, A. A., Klimontov, V. V., & Baranova, A. V. (2021). Medical Genetics, Genomics and Bioinformatics Aid in Understanding Molecular Mechanisms of Human Diseases. International Journal of Molecular Sciences, 22(18), 9962. https://doi.org/10.3390/ijms22189962

Pantoja, R. E. de L., Monteiro, M. C. C., Nascimento, B. dos S., Mota, D. A. da, Balla, I. L., Rocha, I. M. da, Cruz, K. R. M., Fernandes, L. B., Gomes, M. P. de O. M., Espinheiro, R. de F., Araújo, S. A. N., Silva, S. F. da, & Gomes, M. F. (2022). A aplicação do mapeamento genético na identificação dos polimorfismos do câncer de mama e o direcionamento da terapia alvo. Research, Society and Development, 11(10), Artigo 10. https://doi.org/10.33448/rsd-v11i10.32762

Raja, K., Patrick, M., Gao, Y., Madu, D., Yang, Y., & Tsoi, L. C. (2017). A Review of Recent Advancement in Integrating Omics Data with Literature Mining towards Biomedical Discoveries. International Journal of Genomics, 2017, e6213474. https://doi.org/10.1155/2017/6213474

Silva, R. A. dos S. Q., & Cavalcante, G. M. (2021). Potenciais alvos terapêuticos para Covid-19: Uma revisão integrativa. Jornal de Ciências da Saúde do Hospital Universitário da Universidade Federal do Piauí, 4(2), Artigo 2. https://doi.org/10.26694/jcshuufpi.v4i2.986

Soares, J. A., Borges, E. F., Terrinha, D. S., Carmo, V. L. do, Valle, P. D. R. do, Cruz, R. M. S., Oliveira, V. P. O. P., & Martins, A. A. S. (2023). Genoma Humano: 20 anos do sequenciamento que revolucionou a ciência. Brazilian Journal of Implantology and Health Sciences, 5(3), Artigo 3. https://doi.org/10.36557/2674-8169.2023v5n3p1168-1189

Sonam, S.; Singh, K. S. Bioinformatics: Concepts and Applications. In: Advances in Horticultural Crop Management and Value Addition. India: Laxmi Publications Pvt Ltda, p. 127132, 2019.

Stein, R., Beuren, T., Cela, L. R., & Ferrari, F. (2020). Farmacogenômica e Doença Cardiovascular: Onde Estamos e Para Onde Vamos. Arquivos Brasileiros de Cardiologia, 115, 690–700. https://doi.org/10.36660/abc.20200151

Sunil Krishnan, G., Joshi, A., & Kaushik, V. (2021). Bioinformatics in Personalized Medicine. Em V. Singh & A. Kumar (Orgs.), Advances in Bioinformatics (p. 303–315). Springer. https://doi.org/10.1007/978-981-33-6191-1_15

Takaya, D., Takeda-Shitaka, M., Terashi, G., Kanou, K., Iwadate, M., & Umeyama, H. (2008). Bioinformatics based Ligand-Docking and in-silico screening. Chemical & Pharmaceutical Bulletin, 56(5), 742–744. https://doi.org/10.1248/cpb.56.742

Thompson, R., Drew, C. J. G., & Thomas, R. H. (2012). Next generation sequencing in the clinical domain: Clinical advantages, practical, and ethical challenges. Advances in Protein Chemistry and Structural Biology, 89, 27–63. https://doi.org/10.1016/B978-0-12-394287-6.00002-1

Tsoi, L. C., Spain, S. L., Ellinghaus, E., Stuart, P. E., Capon, F., Knight, J., Tejasvi, T., Kang, H. M., Allen, M. H., Lambert, S., Stoll, S. W., Weidinger, S., Gudjonsson, J. E., Koks, S., Kingo, K., Esko, T., Das, S., Metspalu, A., Weichenthal, M., … Elder, J. T. (2015). Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. Nature Communications, 6(1), Artigo 1. https://doi.org/10.1038/ncomms8001

Uesaka, K., Oka, H., Kato, R., Kanie, K., Kojima, T., Tsugawa, H., Toda, Y., & Horinouchi, T. (2022). Bioinformatics in bioscience and bioengineering: Recent advances, applications, and perspectives. Journal of Bioscience and Bioengineering, 134(5), 363–373. https://doi.org/10.1016/j.jbiosc.2022.08.004

Verli, H. (2014). Bioinformática: Da biologia à flexibilidade molecular. Sociedade Brasileira de Bioquímica e Biologia Molecular. https://lume.ufrgs.br/handle/10183/166105

Wang, Y., Zhang, S., Li, F., Zhou, Y., Zhang, Y., Wang, Z., Zhang, R., Zhu, J., Ren, Y., Tan, Y., Qin, C., Li, Y., Li, X., Chen, Y., & Zhu, F. (2020). Therapeutic target database 2020: Enriched resource for facilitating research and early development of targeted therapeutics. Nucleic Acids Research, 48(D1), D1031–D1041. https://doi.org/10.1093/nar/gkz981

Zamora-Obando, H. R., Godoy, A. T., Amaral, A. G., Mesquita, A. de S., Simões, B. E. S., Reis, H. O., Rocha, I., Dallaqua, M., Baptistão, M., Fernandes, M. C. V., Lima, M. F., & Simionato, A. V. C. (2022). Biomarcadores Moleculares De Doenças Humanas: Conceitos Fundamentais, Modelos De Estudo E Aplicações Clínicas. Química Nova, 45, 1098–1113. https://doi.org/10.21577/0100-4042.20170905

Zheng, C. J., Han, L. Y., Yap, C. W., Ji, Z. L., Cao, Z. W., & Chen, Y. Z. (2006). Therapeutic Targets: Progress of Their Exploration and Investigation of Their Characteristics. Pharmacological Reviews, 58(2), 259–279. https://doi.org/10.1124/pr.58.2.4

Zhu, Y., Mo, M., Wei, Y., Wu, J., Pan, J., Freedland, S. J., Zheng, Y., & Ye, D. (2021). Epidemiology and genomics of prostate cancer in Asian men. Nature Reviews Urology, 18(5), Artigo 5. https://doi.org/10.1038/s41585-021-00442-8