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Exome v6 Implementation White Paper

Implementation of our v6 germline exome product

ASHG19 Agenda

Full agenda of Broad Institute presentations, posters, exhibit Hall events and more.

PacBio Sequencing

Datasheet for the PacBio Sequencing product

Microbial Genome Sequencing

Datasheet for the Microbial Genome Sequencing product

AGBTPH19 - Application of Lean Manufacturing Methodologies in High Throughput Genomic Sequencing

Peter Trefry1, Sam DeLuca1, Mike Nasuti1, Shannon Adams1, Marissa Gildea1, Doug Gobron1, Tom Howd1, Tim DeSmet1


1Broad Institute of MIT and Harvard, Cambridge, MA


The utility and application of genomics to understand disease, and the continuing trend to utilize genomics in healthcare, results in an ever increasing demand for greater sequence data generation. Despite the significant reductions in per-base sequencing cost over the last decade, the infrastructure, capital, and reagent costs are still relatively expensive. Top of the line sequencers can cost over 1 million dollars per instrument, and sequencing run costs can still be tens of thousands of dollars. With such high fixed cost associated with genome data generation, it is important to maximize capacity utilization and reduce the non-value add and wasteful workflow process steps. We demonstrate the application of lean manufacturing methodologies and visual management techniques to the genomic sequencing workflow, which results in achieving a sequencer utilization rate of around 90%, while three fold scaling our library preparation process to over 300,000 samples destined for exome and whole human genome sequencing annually.


By combining the sample preparation methods for both exome and whole genome sequencing into a unified, modularized workflow, samples and reagent supply chains can be optimized resulting in more efficient, and cost effective processing. Additional benefits include reductions to work in process and overall cycle times. Here, we illustrate the methodologies that enable low cost per base sequence data generation applicable across large sequencing cores, and modest sized data generation groups.