Article | REF: BIO8205 V1

Next generation sequencing - Tools and issues for human health

Author: Nathalie MARSAUD

Publication date: February 10, 2019

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5. Conclusion

New-generation sequencing techniques are now widely available. The catalog of sequencers has expanded, and today offers a wide range of machines adapted to different structures (research laboratories, hospitals, etc.) and applications. Thanks to second-generation sequencers, it is now possible to produce a very large number of sequences, in record time and at very low cost. In less than twenty years, the cost of sequencing a human genome has been divided by a factor of 100,000. However, these machines have certain limitations, such as the generation of relatively short sequences (less than 1,000 bases), sequencing problems in regions rich in GC or homopolymers, and biases linked to sample amplification by PCR. To overcome these problems, companies have developed new third- and fourth-generation sequencers. The third generation, with Pacific Biosciences' sequencers, is defined by the absence...

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