The thrills and agonies of using next-generation sequencing for somatic mutation detection in cancer


In the 1990s, the field of molecular biology was catapulted into the diagnostic arena as the PCR technology offered performance characteristics and turnaround times more suitable for a clinical laboratory setting than all previous molecular techniques. Over the next 10 years, limitations of the PCR were quickly overcome by the introduction of real-time PCR chemistries and instruments that automated amplification and detection, as well as sample extraction in some turnkey platforms [1]. Molecular diagnostics is once again facing a major technologic revolution with the rapid introduction of massively-parallel or next-generation sequencing (NGS).

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