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Computer Aided Intervention and Diagnostics in Clinical and Medical Images pp 135–142Cite as

Evolution of Methods for NGS Short Read Alignment and Analysis of the NGS Sequences for Medical Applications

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Part of the book series: Lecture Notes in Computational Vision and Biomechanics ((LNCVB,volume 31))

Abstract

In medical and genomic research, the Next Generation Sequencing (NGS) has a major role. Presently, NGS data are produced at the rate of 10 TB a day and challenge the storage and data processing capacities. These huge datasets are being used by a wide sort of applications such as customized cancer healing and precision medicine. NGS technologies offer prospects for understanding unidentified species and complex syndrome. To utilize genomic data for such applications, the genomic data in the form of short reads produced by NGS initially has to be assembled into whole genome sequence. And then, the sequences have to be compared for similarity and variation discovery which will be useful for analyzing and arriving at health-related solutions. In this paper, the fundamental methods for short read alignment such as assembly-based and alignment-based methods are discussed. Followed by which, the different ways to compare the sequences to check the alignment for similarity/dissimilarity discovery are discussed. This comparative analysis report can be utilized for health-related medical decisions.

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Authors and Affiliations

  1. Department of Computer Sciences Technology, Karunya Institute of Technology and Sciences, Coimbatore, India

    J. A. M. Rexie & Kumudha Raimond

Authors
  1. J. A. M. Rexie
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  2. Kumudha Raimond
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Corresponding author

Correspondence to J. A. M. Rexie .

Editor information

Editors and Affiliations

  1. Department of Computer Science and Engineering, Karunya Institute of Technology and Sciences, Coimbatore, Tamil Nadu, India

    J. Dinesh Peter

  2. Department of Electrical and Computer Engineering, University of Alabama at Birmingham, Birmingham, AL, USA

    Steven Lawrence Fernandes

  3. Brazilian Computer Society, Aalcides Platiny Alves Batista , Porto Alegre, Rio Grande do Sul, Brazil

    Carlos Eduardo Thomaz

  4. School of Computer Science, University of KwaZulu-Natal, Durban, South Africa

    Serestina Viriri

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Rexie, J.A.M., Raimond, K. (2019). Evolution of Methods for NGS Short Read Alignment and Analysis of the NGS Sequences for Medical Applications. In: Peter, J., Fernandes, S., Eduardo Thomaz, C., Viriri, S. (eds) Computer Aided Intervention and Diagnostics in Clinical and Medical Images. Lecture Notes in Computational Vision and Biomechanics, vol 31. Springer, Cham. https://doi.org/10.1007/978-3-030-04061-1_13

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  • DOI: https://doi.org/10.1007/978-3-030-04061-1_13

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-04060-4

  • Online ISBN: 978-3-030-04061-1

  • eBook Packages: EngineeringEngineering (R0)

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