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Updated: Sep 18, 2025

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
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From DNA to Big Data: NGS Technologies and Their Applications.
Reshmi Ramakrishnan1, Ashitha Washington2, S Suveena1
1GENEFiTHUB, Ernakulam, Kochi, Kerala, India.
Methods in Molecular Biology (Clifton, N.J.)
|June 24, 2025
Summary
Next-Generation Sequencing (NGS) has revolutionized healthcare research, driving advancements in fields from oncology to space biology. Efficient big data technologies are crucial for managing and analyzing the increasing volume and complexity of NGS data.
Area of Science:
- Genomics and Bioinformatics
- Biotechnology
- Computational Biology
Background:
- The last decade saw a significant increase in Next-Generation Sequencing (NGS) data due to technological and computational advances.
- NGS, alongside Artificial Intelligence (AI), is transforming healthcare research and various scientific disciplines.
Purpose of the Study:
- To provide a comprehensive overview of NGS technologies and their applications.
- To discuss the impact of NGS on the COVID-19 pandemic and other fields.
- To explore the challenges and future directions in NGS data analysis.
Main Methods:
- Historical perspective on sequencing and evolution of NGS technologies.
- Outline of various NGS methods, workflows, and key analysis stages.
- Discussion of data analysis tools and techniques for genomics, transcriptomics, and microbiome studies.
Main Results:
- NGS has diverse applications in oncology, agriculture, archaeogenetics, and space biology.
- The surge in NGS data presents challenges in management and analysis.
- Clinical applications of NGS data are expanding.
Conclusions:
- There is an urgent need for advanced big data technologies and tools to manage and analyze complex NGS datasets.
- Efficient data analysis is critical for deriving actionable insights from genomic, transcriptomic, and microbiome studies.
- NGS continues to evolve, promising further breakthroughs in scientific research and healthcare.
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