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Glossary Term
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Next-Generation Sequencing (NGS)

Definition

Next-Generation Sequencing (NGS) is a high-throughput method used to determine the sequence of nucleotides (DNA or RNA) in a genome or transcriptome. Unlike traditional sequencing technologies (e.g., Sanger sequencing), NGS allows for massively parallel sequencing, enabling the analysis of millions of DNA or RNA molecules simultaneously. This technology has revolutionized genomics by providing faster, more affordable, and scalable sequencing capabilities.

Relevance to the MedTech Industry

NGS is primarily used in genetic research, diagnostics, and personalized medicine. It enables detailed genomic profiling, which is essential for understanding complex genetic diseases, identifying mutations, and tailoring treatments based on individual genetic makeup. In the MedTech industry, NGS plays a pivotal role in advancing molecular diagnostics, including cancer genomics, genetic disorders, and infectious disease testing.

Additional Information & Related Terms

Key Features of Next-Generation Sequencing

  1. High Throughput:

    • NGS can generate millions to billions of sequences in a single run, significantly increasing the amount of data obtained compared to traditional methods.

    • Example: Sequencing an entire human genome in days instead of years.

  2. Scalability:

    • NGS can be used to sequence whole genomes, exomes, targeted regions, or transcriptomes, providing flexibility for a range of applications from research to clinical diagnostics.

  3. Speed and Efficiency:

    • NGS provides rapid sequencing with less time and lower cost compared to traditional sequencing technologies, enabling broader use in clinical settings and research.

  4. Depth of Coverage:

    • NGS provides comprehensive data with high accuracy by sequencing millions of fragments, allowing for the detection of rare variants, mutations, and sequencing errors.

  5. Data Analysis Capabilities:

    • NGS generates vast amounts of data that require advanced bioinformatics tools to process, analyze, and interpret, making data analysis a crucial part of the NGS workflow.

Applications of Next-Generation Sequencing in Medicine

  1. Cancer Genomics:

    • NGS is used to identify genetic mutations, copy number variations, and gene fusions in cancer cells. This helps to tailor personalized treatments and monitor disease progression.

    • Example: Identifying specific mutations in lung cancer to match targeted therapies.

  2. Genetic Testing:

    • NGS is applied to detect inherited genetic disorders, rare diseases, and prenatal testing, providing comprehensive genetic screening for conditions like cystic fibrosis or Down syndrome.

    • Example: Whole-exome sequencing to identify genetic causes of inherited conditions.

  3. Infectious Disease Diagnostics:

    • NGS enables the identification of pathogens, including bacteria, viruses, and fungi, through sequencing their genomes. This can be used for detecting antibiotic resistance and emerging infectious diseases.

    • Example: Sequencing the SARS-CoV-2 virus to monitor mutations and variants of concern.

  4. Pharmacogenomics:

    • NGS is used to analyze how an individual’s genetic makeup affects their response to drugs, aiding in the selection of personalized treatments and dosage regimens.

    • Example: Analyzing genetic markers to predict patient response to cancer drugs like Herceptin.

  5. Microbiome Analysis:

    • NGS helps analyze microbial communities in the human body, providing insights into their role in health, disease, and personalized nutrition.

    • Example: Analyzing gut microbiome samples for personalized dietary recommendations.



Related Terms

  • Whole Genome Sequencing (WGS): A method to determine the complete DNA sequence of an organism’s genome, often performed using NGS technology.

  • Exome Sequencing: A targeted NGS approach focusing on the protein-coding regions of the genome, commonly used for genetic testing.

  • Bioinformatics: The field of science that uses computational tools to analyze and interpret biological data, particularly NGS data.

  • Single-Cell Sequencing: An advanced NGS technique that sequences the genome or transcriptome of individual cells, providing insights into cellular heterogeneity.

  • RNA Sequencing (RNA-Seq): A type of NGS used to analyze the transcriptome, helping to understand gene expression and regulation.


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