Patwekar, Mohsina and Patwekar, Faheem and Badarinath, A Venkata and Billah, Abdul Ajeed Mohathasim and Gorijavolu, Vamseekrishna and Krishnan, Karthickeyan and Shanmugasundaram, Palani and Prasad, P. Dharani and Kazi, A. A. (2025) Genomic Sequencing: Techniques, Advancements, and the Path Ahead. Journal of Bio-X Research, 8. ISSN 2577-3585
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Abstract
Genomic Sequencing: Techniques, Advancements, and the Path Ahead Mohsina Patwekar Luqman College of Pharmacy India Novel Global Community Educational Foundation Australia Faheem Patwekar Luqman College of Pharmacy India A Venkata Badarinath Department of Pharmaceutics, Santhiram College of Pharmacy, Neravada, Nandyala 518112, Andhra Pradesh, India. Abdul Ajeed Mohathasim Billah Department of Pharmacy Practice, Sri Ramachandra Faculty of Pharmacy, SRIHER (DU), Porur India Vamseekrishna Gorijavolu Department of Pharmaceutical Analysis, NRI College of Pharmacy, Pothavarappadu (v), Eluru (D.t), Andhra Pradesh 521212, India. Karthickeyan Krishnan School of Pharmaceutical Sciences, Vels Institute of Science, Technology and Advanced Studies (VISTAS), Pallavaram, Chennai 600 117, India. Palani Shanmugasundaram School of Pharmaceutical Sciences, Vels Institute of Science, Technology and Advanced Studies (VISTAS), Pallavaram, Chennai 600 117, India. P. Dharani Prasad Department of Pharmacology, Mohan Babu University, MB School of Pharmaceutical Sciences (Erstwhile Sree Vidyaniketan College of Pharmacy), Tirupati, India. A. A. Kazi Department of Pharmaceutical Chemistry, N.B.S. Institute of Pharmacy India
The development of genomic sequencing technology, from conventional techniques to state-of-the-art inventions, has greatly improved our understanding of genetic material. This review examines important advancements in sequencing techniques and how they have revolutionized genomics research. High-throughput capabilities made possible by next-generation sequencing (NGS) have enabled quick and affordable genomic analysis. Digital gene expression profiling was made possible by methods such as serial analysis of gene expression (SAGE), whereas long-read capabilities without amplification were analyzed by single-molecule sequencing, as demonstrated by Oxford Nanopore’s nanopore-based sequencing and PacBio’s single-molecule real-time (SMRT) technology. Synthetic long-read sequencing is one example of a hybrid technique that enhances genome assembly. New techniques, such as epigenetic sequencing, have revealed that DNA alterations are essential for gene control, and spatial transcriptomics has connected gene expression to tissue-specific patterns. Target analysis and knowledge of microbial ecosystems were further enhanced via the use of sophisticated techniques, including metagenomics and CRISPR-Cas9-based sequencing. When combined, these techniques allow researchers to examine microbial communities, transcriptome diversity, genomic structure, and epigenetic changes with new clarity. For example, single-cell sequencing has shown molecular heterogeneity between cells, and long-read sequencing has revealed intricate isoform variants. Personalized medicine has advanced owing to spatial transcriptomics, which targets gene expression in specific organs. Digital sequencing has also improved the sensitivity of mutation identification, transforming the diagnosis of the disease. The convergence of sequencing technologies has ushered in a new era of genomic studies, opening the door to groundbreaking findings in ecology, biology, and medicine. Future developments will improve knowledge of human genetics by further improving sequencing accuracy, affordability, and applicability.
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Item Type: | Article |
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Subjects: | Pharmaceutical Chemistry and Analysis > Pharmaceutics |
Domains: | Pharmaceutics |
Depositing User: | Mr IR Admin |
Date Deposited: | 20 Aug 2025 06:20 |
Last Modified: | 20 Aug 2025 06:20 |
URI: | https://ir.vistas.ac.in/id/eprint/10044 |