Role of next-generation sequencing in the discovery of mutational biomarkers

Anushka Jain, Prachi Srivastava, Prekshi Garg*

Bioinfo Core Solutions (OPC) Pvt. Ltd., Lucknow, Uttar Pradesh, India

Refer this article

Anushka Jain, Prachi Srivastava, Prekshi Garg, 2026. Role of next-generation sequencing in the discovery of mutational biomarkers. Journal of medical pharmaceutical and allied sciences, V 15, I 3, Pages 17 – 22. Doi: https://doi.org/10.55522/jmpas.V15I3.7030.

ABSTRACT

Any measurable indicators of biological processes, disease states or therapeutic response is called biomarkers. They play a key role in modern clinical decision-making. Mutational biomarkers include single-nucleotide variants, insertions and deletions, copy-number alterations, and structural rearrangements. They are important as they provide stable genomic insights into disease susceptibility, progression, and treatment response. With the advent of next-generation sequencing (NGS) technology, this concept of mutational biomarker has been revolutionised. This is because NGS enables rapid, high-throughput, and cost-effective genome analysis compared with traditional sequencing technologies. This review outlines the principles, platforms, and experimental methodologies of NGS, including whole-genome, whole-exome, targeted panel, and single-cell sequencing, for identifying mutational biomarkers. The significance of bioinformatics analysis and the therapeutic utility of NGS in cancer precision medicine are also emphasised. Despite obstacles in interpretation and standardisation, NGS has great potential for improving early diagnosis, tailored therapy, and patient outcomes.

Keywords:

Single-nucleotide variants, Next-generation sequencing, High-throughput, Whole-genome, Whole-exome, Targeted panel.

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