Recent Advances in Sequencing Technology

As we celebrate the tenth anniversary of the sequencing of the first human genome, we recognize the remarkable technological innovation that now provides the ability to resequence thousands of human genomes a year. While the current methods of choice utilize amplification-based methods and the corresponding challenges of sample preparation that accompany these methods, new technologies that do not require amplification have emerged. Single-molecule sequencing methods have the potential to dramatically shape the next 10 years of technological progress driven by the continuing interest of driving the cost of whole genome sequencing below the $1000 cost threshold. Yet while whole genome sequencing remains of interest, sequencing technologies also enable new approaches for genome exploration and experimentation including direct RNA sequencing, complete transcript sequencing and real time methods for both nucleic acid and enzyme kinetics.