Next-generation Sequencing and its Applications in Molecular Diagnostics

Zhenqiang Su; Baitang Ning; Hong Fang; Huixiao Hong; Roger Perkins; Weida Tong; Leming Shi


Expert Rev Mol Diagn. 2011;11(3):333-343. 

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Expert Commentary

The NGS technologies are markedly accelerating multiple research areas, making it feasible to conduct experiments that were previously not affordable or even technically possible. Novel fields and applications in biology, life sciences and medicine are becoming a reality. Being able to provide single-nucleotide resolution, as well as simplified sample preparation, has made NGS technologies promising in molecular diagnostics in which high sensitivity and specificity are required. The translation of NGS technologies into clinical diagnostics is also in the early stages of development and is mainly focusing on applications that require a modest amount of genomic sequence information, relative quantification and high-sensitivity detection.

Currently, the per-base-position error rate for NGS sequencers is approximately 0.5–2%. The combination of various errors and variability arising from DNA fragmentation, sequencing library preparation, sequencing-by-synthesis and short reads alignment/assembly could incur a significant false-positive rate. Thus, sequence information obtained with NGS technologies could not be used directly for molecular diagnosis without additional revalidation. Nonetheless, NGS technologies have not yet reached their full potential and are still undergoing rapid development. With additional technical improvements, the cost will continually be reduced and the technical limitations will also be gradually addressed.

It will probably take a number of years for NGS technologies to become a common clinical diagnostic tool. However, there is no question that the information obtained from NGS technologies will dramatically reshape our understanding of many human diseases and guide researchers to develop new clinical diagnostic tools and discover novel drugs that target the critical genes that cause diseases.


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