Next Generation Sequencing; Clinical Aspects

Next-Generation Sequencing (NGS) is a powerful, fast growing technology in genetic research, and plays a key role in clinical practice.NGS entails rapid sequencing of millions of DNA and RNA fragments with comprehensive insight and understanding of genomic structure, genetic variations and gene expression.It has brought a paradigm shift in molecular techniques, facilitating studies on constitutional disorders, cancers and infectious diseases.The use of NGS has opened up new avenues in research, diagnostics, and personalized medicine and has not only improved the diagnostic methods, but plays a key role in development of targeted therapy and precision medicine.One of the most significant developments in NGS is the notable reduction in sequencing costs, high throughput, better resolution and improved data analysis.These advancements have been instrumental in our understanding of complex genomic regions with greater precision and better understanding of diseases.Various approaches can be used to analyze DNA using NGS techniques, such as whole-genome sequencing, whole-exome sequencing, and Targeted (panel) sequencing.Whole-genome sequencing (WGS) is a comprehensive genetic technique that involves assessment of whole DNA sequence of an individual's genome.It provides a comprehensive blueprint of an individual's genetic makeup, inclusive of all the genes, their coding and non-

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Publication Details

Journal
Journal of Islamabad Medical & Dental College
Published
2024-09-21
DOI
https://doi.org/10.35787/jimdc.v13i3.1297
Primary Topic
Genomics and Rare Diseases
Type
article
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article

Next Generation Sequencing; Clinical Aspects

Naghmi Asif, Khalid Hassan
Journal of Islamabad Medical & Dental College
Genomics and Rare Diseases
article

Next Generation Sequencing; Clinical Aspects

Naghmi Asif, Khalid Hassan
article en

Abstract

Next-Generation Sequencing (NGS) is a powerful, fast growing technology in genetic research, and plays a key role in clinical practice.NGS entails rapid sequencing of millions of DNA and RNA fragments with comprehensive insight and understanding of genomic structure, genetic variations and gene expression.It has brought a paradigm shift in molecular techniques, facilitating studies on constitutional disorders, cancers and infectious diseases.The use of NGS has opened up new avenues in research, diagnostics, and personalized medicine and has not only improved the diagnostic methods, but plays a key role in development of targeted therapy and precision medicine.One of the most significant developments in NGS is the notable reduction in sequencing costs, high throughput, better resolution and improved data analysis.These advancements have been instrumental in our understanding of complex genomic regions with greater precision and better understanding of diseases.Various approaches can be used to analyze DNA using NGS techniques, such as whole-genome sequencing, whole-exome sequencing, and Targeted (panel) sequencing.Whole-genome sequencing (WGS) is a comprehensive genetic technique that involves assessment of whole DNA sequence of an individual's genome.It provides a comprehensive blueprint of an individual's genetic makeup, inclusive of all the genes, their coding and non-

Journal of Islamabad Medical & Dental CollegeVol. 13(3)
Karachi Medical and Dental College (PK)
Zero hunger
Openalex Percentile: Top 82%
Genomics and Rare Diseases
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