Stacey Gabriel, PhD
Senior Director, Genomics Platform
Broad Institute of MIT & Harvard
A genome every 15 minutes – sequencing genomes at scale
Recent advances in genomics technology have created vast opportunity in the breadth (scale of data collection, type of nucleic acid, type of event) and the resolution (rare somatic mutations, single cells, cfDNA) at which human biology can be studied. In particular, implementation of the HiSeqX platform has opened the door to human whole genome sequencing in an unprecedented way, enabling projects that would not have been undertaken previously and setting the stage for bold new directions at the population scale. We routinely and consistently produce 30X genomes at a pace of a new genome every 12 minutes and have produced over 55,000 whole genome sequences. Extensive process optimization, workflow management, the creation of a new cloud-based data processing capability, quality control and monitoring, and close collaboration with users has enabled this scale of production. Still there remains ample room for improvement on overall cost, on data handling and sharing, in adding value and for increasing the utility of a ‘vanilla’ whole genome sequence.
