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ASHG PacBio Workshop: Addressing hidden heritability through long-read Single Molecule Real-Time (SMRT) Sequencing – Introduction to ASHG Workshop

Mike Hunkapiller, CEO of Pacific Biosciences, opened the PacBio 2015 ASHG Workshop with a historical perspective of human genome sequencing, starting with the Human Genome Project. While advances have been made in technology, throughput and cost reductions, the quality of genomes hasn’t kept pace with decreases in cost. Hunkapiller shared the news of the company’s launch of the Sequel System – which offers SMRT Sequencing and long reads at seven times greater throughput over the PacBio RS II and roughly half the cost, making it feasible to use the system for de novo assembly of high-quality human genomes. He also stated that the platform has the capacity to scale over time to handle increasingly higher-density SMRT Cells, pointing toward a future where de novo human genomes will become both practical and routine.

 

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