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Bioinformatics: new tools and applications in life science and personalized medicine

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Abstract

While we have a basic understanding of the functioning of the gene when coding sequences of specific proteins, we feel the lack of information on the role that DNA has on specific diseases or functions of thousands of proteins that are produced. Bioinformatics combines the methods used in the collection, storage, identification, analysis, and correlation of this huge and complex information. All this work produces an “ocean” of information that can only be “sailed” with the help of computerized methods. The goal is to provide scientists with the right means to explain normal biological processes, dysfunctions of these processes which give rise to disease and approaches that allow the discovery of new medical cures. Recently, sequencing platforms, a large scale of genomes and transcriptomes, have created new challenges not only to the genomics but especially for bioinformatics. The intent of this article is to compile a list of tools and information resources used by scientists to treat information from the massive sequencing of recent platforms to new generations and the applications of this information in different areas of life sciences including medicine.

Key points

• Biological data mining

• Omic approaches

• From genotype to phenotype

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Funding

The authors are grateful to the Foundation for Science and Technology (FCT, Portugal) and FEDER under Programme PT2020 for financial support to CIMO (UID/AGR/00690/2019).

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  1. Centro de Investigação de Montanha (CIMO), Instituto Politécnico de Bragança, Campus de Santa Apolónia, 5300-253, Bragança, Portugal

    Iuliia Branco & Altino Choupina

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  1. Iuliia Branco
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I.B. and A.C. designed prepared the manuscript; A.C. wrote the manuscript; and I.B. made the corrections including the English text and confirmation of the bibliography and URLs.

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Correspondence to Altino Choupina.

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Branco, I., Choupina, A. Bioinformatics: new tools and applications in life science and personalized medicine. Appl Microbiol Biotechnol 105, 937–951 (2021). https://doi.org/10.1007/s00253-020-11056-2

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