AGBT16 day 4: Directed Genomics

Saturday, February 13, 2016 11:26:

Cynthia Hendrickson, Directed Genomics New England BioLabs “A novel fully customizable hybridization-based enrichment technology integrating capture and library preparation.” Cynthia was describing the new target capture chemistry she's been building with NEB. I wrote up an overview of their method in a post from last years AGBT. The method works with 10ng to 1ug of DNA from FFPE and FFZN (20-100ng inputs shown), and generates high-quality and fully automateable capture libraries in a 6-7 hour turnaround  with; 90% of reads on target, very high coverage uniformity and minimal GC bias. You can capture a single gene or many targets, allowing a single workflow  instead of having to choose between PCR or hyb-cap. The technology includes barcodes for up to 120 sample IDs at i7, and a 12bp UMI on the i5 end.

Directed Genomics go through an iteration on probe mixing to generate a well balanced pool, and you can add or remove targets very easily. The technology can target from 100-500bp fragments depending on your requirements. The first product is the NEB next direct cancer hotspot panel: 37kb covers 18,000 COSMIC regions, with rapid sequencing as targets are just 150bp average length.

Cynthia showed data generated on the Horizon reference controls at 5% mutant allele frequency and saw very consistent results. In the formalin fixed multiplex reference standard worked well down to 10% mAF.

Custom panels are available and she discussed some of the first early access panels, which had from 2 to 133 genes included breakpoints, CNVs etc.