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Related Concept Videos

RNA-seq03:21

RNA-seq

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RNA sequencing, or RNA-Seq, is a high-throughput sequencing technology used to study the transcriptome of a cell. Transcriptomics helps to interpret the functional elements of a genome and identify the molecular constituents of an organism. Additionally, it also helps in understanding the development of an organism and the occurrence of diseases. 
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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DNA sequencing is a fundamental technique that is routinely used in the biological sciences. This method can be applied to a range of questions at different scales - from the sequencing of a cloned DNA fragment or the study of a mutation in a gene up to whole-genome sequencing. However, despite the widespread use of sequencing today, it was not until 1977 that Fredrick Sanger and his collaborators developed the chain-termination method to decode DNA sequences. It relies on the separation of a...
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Next-generation Sequencing03:00

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The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
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Related Experiment Video

Updated: Aug 3, 2025

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SARS-CoV-2 Sequencing for Variant Surveillance.

Julie Woolworth Hirschhorn1, Jaclyn Dunne2

  • 1Department of Pathology and Laboratory Medicine, Medical University of South Carolina, Charleston, SC, USA. woolworj@musc.edu.

Methods in Molecular Biology (Clifton, N.J.)
|April 11, 2023
PubMed
Summary
This summary is machine-generated.

Next-generation sequencing enables comprehensive analysis of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genome. This method offers scalability and cost-effectiveness for viral surveillance, despite some bioinformatics challenges.

Keywords:
COVID-19Next-generation sequencingSARS-CoV-2Variants

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Area of Science:

  • Virology
  • Genomics
  • Molecular Biology

Background:

  • Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) genomic surveillance is crucial for understanding viral evolution and transmission.
  • Next-generation sequencing (NGS) technologies offer powerful tools for comprehensive viral genome analysis.

Purpose of the Study:

  • To describe a modified FDA Emergency Use Authorization (EUA) procedure for the genomic sequencing of SARS-CoV-2.
  • To outline the advantages and disadvantages of using NGS for SARS-CoV-2 surveillance.

Main Methods:

  • Detailed description of a modified EUA procedure for SARS-CoV-2 whole-genome sequencing.
  • Emphasis on specimen quality, genome coverage, and annotation for successful sequencing.

Main Results:

  • NGS provides scalable, high-throughput, and cost-effective full genome analysis of SARS-CoV-2.
  • Challenges include expensive instrumentation, reagent costs, longer time-to-result, and complex bioinformatics.

Conclusions:

  • The described NGS procedure, a research use only (RUO) version, facilitates robust SARS-CoV-2 genomic surveillance.
  • Understanding the technical considerations is key to optimizing SARS-CoV-2 genomic sequencing.