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Related Concept Videos

Next-generation Sequencing03:00

Next-generation Sequencing

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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.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features....
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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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Maxam-Gilbert Sequencing01:05

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In the same year as the discovery of the Sanger sequencing method, another group of scientists, Allan Maxam and Walter Gilbert, demonstrated their chemical-cleavage method for DNA sequencing. The Maxam-Gilbert method relies on using different chemicals that can cleave the DNA sequence at specific sites, the separation of resulting DNA fragments of variable size using electrophoresis, and deciphering the DNA sequence from the resulting gel bands.
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Sanger Sequencing01:57

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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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Updated: Jan 2, 2026

Rare Event Detection Using Error-corrected DNA and RNA Sequencing
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Clinical Massively Parallel Sequencing.

Ge Gao1, David I Smith2

  • 1Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC.

Clinical Chemistry
|December 8, 2019
PubMed
Summary
This summary is machine-generated.

Massively parallel sequencing (MPS) technologies have rapidly advanced, enabling comprehensive genomic analysis. These DNA sequencing innovations are transforming clinical practice and diagnostics.

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Area of Science:

  • Genomics
  • Molecular Biology
  • Clinical Diagnostics

Background:

  • Massively parallel sequencing (MPS) technologies have seen exponential growth since 2006, increasing output from megabases to terabases.
  • First-generation MPS amplifies DNA, while second-generation MPS sequences single molecules for longer reads.
  • MPS enables analysis of genomes, exomes, gene panels, transcriptomes, and methylation patterns.

Purpose of the Study:

  • To discuss major first- and second-generation MPS platforms.
  • To outline the clinical applications of MPS technologies.

Main Methods:

  • Review of existing first- and second-generation massively parallel sequencing platforms.
  • Analysis of current and emerging clinical uses of MPS.

Main Results:

  • MPS platforms now offer terabase-scale DNA sequencing capabilities.
  • Targeted gene panel sequencing is the predominant clinical application, with whole-genome sequencing poised for wider adoption.
  • Emerging applications include metagenomics and genome-wide methylation analysis.

Conclusions:

  • The dramatic increase in MPS output will revolutionize clinical DNA sequencing.
  • Cost reductions in genome sequencing will likely shift clinical practice towards whole-genome analysis.
  • MPS technologies are fundamentally transforming clinical practice and diagnostics.