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ASHG19 - Broad Institute's Genomics Platform Portfolio Leads support the Research Community

ASHG19 - Broad Institute's Genomics Platform Portfolio Leads support the Research Community

Tera Bowers, Carrie Cibulskis, Justin Abreu, Andrew Hollinger, Cole Walsh, Maura Costello, Niall Lennon

In 2017, the Genomics Platform (GP) at the Broad Institute created a new set of roles (Portfolio Leads) to better support both the germline and somatic research communities. The creation of these roles have allowed the platform to roll out new products and improve existing products with a focus on the specific features required to serve the scientific questions our communities want to address. Once of the key drivers for germline portfolio is Broad’s Medical and Populations Genetics (MPG) group.  When researching the requirements for the new exome, MPG investigators expressed a need for better mitochondrial coverage. After working closely with MPG, our R&D team, and TWIST Biosciences, a 100 fold increase in the mitochondrial genome coverage was achieved while still maintaining abundant and even coverage across the rest of the custom exome design. Another offering, portfolio has been instrumental in developing are the new single-cell RNA-seq products. A collaboration with Aviv Regev’s lab, has successfully scaled the SmartSeq2M protocol with full automation from library construction to sequencing. The Platform now has the capacity to library construct and sequence 16 plates a week. Thus, allowing more researchers access to sequence either single-cell or populations for their full-length transcript capture methods. A suite of long read sequencing products are being developed. These aim to provide improved structural variation calling in human whole genome sequencing. The GP was an early access site for PacBio’s Sequel II instrument with higher yielding 8M SMRT cells and longer run times. In GP’s hands, the Sequel II has delivered raw average read lengths of ~50 kb with 50% of reads being >140 kB. These new offerings will continue to enable the science of our research community.

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