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Bioinformatics in Gene and Genome Analysis

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Abstract

Gene and genome analysis play important roles in molecular biology research and individualized medicine. Thanks to the development of sequencing techniques, sequencing data is getting more and more abundant, which requires bioinformatic tools to handle. As a combination of computational methods, statistics, and molecular biology, bioinformatics is a bridge between sequencing data and clinical interpretation. Via a half of decade development, bioinformatics has obtained novel achievements in data storage, assembly’s speed and accuracy, variant identification, and friendly-to-user interfaces. In this chapter, we focus on the history and development of bioinformatics as well as introduced the principles and several popular computational tools for each step in the workflow of gene and genome analysis, including data generation, genome assembly, annotation, comparative analysis, variant calling, and finally interpretation. Since the genomes of prokaryotes are distinguished from eukaryotes, we also mentioned the differences in the data process between humans as well as animals and microorganisms.

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Abbreviations

BAM:

Binary SAM

DNA:

Deoxyribose nucleic acid

KEGG:

Kyoto Encyclopedia of Genes and Genomes

NGS:

Next generation sequencing

RNA:

Ribosenucleic acid

SAM:

Sequence Alignment/Map

SNPs:

Single nucleotide polymorphisms

VCF:

Variant call format

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Author information

Authors and Affiliations

  1. Faculty of Applied Sciences, International School, Vietnam National University, Hanoi, Vietnam

    Nhat Le Bui & Dinh-Toi Chu

  2. Center for Biomedicine and Community Health, International School, Vietnam National University, Hanoi, Vietnam

    Nhat Le Bui, Van-Quy Do & Dinh-Toi Chu

Authors
  1. Nhat Le Bui
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  2. Van-Quy Do
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  3. Dinh-Toi Chu
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Corresponding author

Correspondence to Dinh-Toi Chu .

Editor information

Editors and Affiliations

  1. Department of Biosciences, Indrashil University, Mehsana, Gujarat, India

    Vijai Singh

  2. Biotechnology, Rama University, Kanpur, Uttar Pradesh, India

    Ajay Kumar

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Le Bui, N., Do, VQ., Chu, DT. (2024). Bioinformatics in Gene and Genome Analysis. In: Singh, V., Kumar, A. (eds) Advances in Bioinformatics. Springer, Singapore. https://doi.org/10.1007/978-981-99-8401-5_4

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