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

  • J. A. M. RexieEmail author
  • Kumudha Raimond
Conference paper
Part of the Lecture Notes in Computational Vision and Biomechanics book series (LNCVB, volume 31)


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.


NGS Short read alignment Multiple sequence alignment Pairwise sequence alignment 


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© Springer Nature Switzerland AG 2019

Authors and Affiliations

  1. 1.Department of Computer Sciences TechnologyKarunya Institute of Technology and SciencesCoimbatoreIndia

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