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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing
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Detection of Rare Mutations in CtDNA Using Next Generation Sequencing

Published on: August 24, 2017

Editorial: "Next-Generation Sequencing in Rare Genetic Diseases"

Edoardo Errichiello1,2, Paola Dimartino2

  • 1Unit of Medical Genetics, Department of Molecular Medicine, University of Pavia, 27100 Pavia, Italy.

Genes
|October 27, 2026
PubMed

Abstract:

Rare genetic diseases (RGDs) affect more than 300-400 million people worldwide [...].

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Next-generation Sequencing03:00

Next-generation Sequencing

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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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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