Genomic Sequencing: Techniques, Advancements, and the Path Ahead
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-thr...
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| Format: | Article |
| Language: | English |
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American Association for the Advancement of Science (AAAS)
2025-01-01
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| Series: | Journal of Bio-X Research |
| Online Access: | https://spj.science.org/doi/10.34133/jbioxresearch.0046 |
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| author | Mohsina Patwekar Faheem Patwekar A Venkata Badarinath Abdul Ajeed Mohathasim Billah Vamseekrishna Gorijavolu Karthickeyan Krishnan Palani Shanmugasundaram P. Dharani Prasad A. A. Kazi |
| author_facet | Mohsina Patwekar Faheem Patwekar A Venkata Badarinath Abdul Ajeed Mohathasim Billah Vamseekrishna Gorijavolu Karthickeyan Krishnan Palani Shanmugasundaram P. Dharani Prasad A. A. Kazi |
| author_sort | Mohsina Patwekar |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-e0af9d7f35e0478a929d87cf9ea58686 |
| institution | OA Journals |
| issn | 2577-3585 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | American Association for the Advancement of Science (AAAS) |
| record_format | Article |
| series | Journal of Bio-X Research |
| spelling | doaj-art-e0af9d7f35e0478a929d87cf9ea586862025-08-20T02:24:22ZengAmerican Association for the Advancement of Science (AAAS)Journal of Bio-X Research2577-35852025-01-01810.34133/jbioxresearch.0046Genomic Sequencing: Techniques, Advancements, and the Path AheadMohsina Patwekar0Faheem Patwekar1A Venkata Badarinath2Abdul Ajeed Mohathasim Billah3Vamseekrishna Gorijavolu4Karthickeyan Krishnan5Palani Shanmugasundaram6P. Dharani Prasad7A. A. Kazi8Luqman College of Pharmacy, Gulbarga, Karnataka, India.Luqman College of Pharmacy, Gulbarga, Karnataka, India.Department of Pharmaceutics, Santhiram College of Pharmacy, Neravada, Nandyala 518112, Andhra Pradesh, India.Department of Pharmacy Practice, Sri Ramachandra Faculty of Pharmacy, SRIHER (DU), Porur, Chennai, Tamil Nadu, India.Department of Pharmaceutical Analysis, NRI College of Pharmacy, Pothavarappadu (v), Eluru (D.t), Andhra Pradesh 521212, India.School of Pharmaceutical Sciences, Vels Institute of Science, Technology and Advanced Studies (VISTAS), Pallavaram, Chennai 600 117, India.School of Pharmaceutical Sciences, Vels Institute of Science, Technology and Advanced Studies (VISTAS), Pallavaram, Chennai 600 117, India.Department of Pharmacology, Mohan Babu University, MB School of Pharmaceutical Sciences (Erstwhile Sree Vidyaniketan College of Pharmacy), Tirupati, India.Department of Pharmaceutical Chemistry, N.B.S. Institute of Pharmacy, Ausa, Maharashtra, 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.https://spj.science.org/doi/10.34133/jbioxresearch.0046 |
| spellingShingle | Mohsina Patwekar Faheem Patwekar A Venkata Badarinath Abdul Ajeed Mohathasim Billah Vamseekrishna Gorijavolu Karthickeyan Krishnan Palani Shanmugasundaram P. Dharani Prasad A. A. Kazi Genomic Sequencing: Techniques, Advancements, and the Path Ahead Journal of Bio-X Research |
| title | Genomic Sequencing: Techniques, Advancements, and the Path Ahead |
| title_full | Genomic Sequencing: Techniques, Advancements, and the Path Ahead |
| title_fullStr | Genomic Sequencing: Techniques, Advancements, and the Path Ahead |
| title_full_unstemmed | Genomic Sequencing: Techniques, Advancements, and the Path Ahead |
| title_short | Genomic Sequencing: Techniques, Advancements, and the Path Ahead |
| title_sort | genomic sequencing techniques advancements and the path ahead |
| url | https://spj.science.org/doi/10.34133/jbioxresearch.0046 |
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