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AGBT19 Poster - A re-designed and unified workflow for exome and custom targeted panels developed to support a wide variety of projects at scale

Michelle Cipicchio, Gina Vicente, Sophie Low, Matthew DeFelice, Mark Fleharty, Jonna Grimsby, Hayley Lyon, Alyssa Macbeth, Justin Abreu, Brendan Blumenstiel, Maura Costello, Tim Desmet, Niall Lennon, Stacey Gabriel

The Broad Institute Genomics Platform has developed a complete end-to-end redesign of our targeted sequencing products, enabling lower input, faster turnaround time, lower cost, and improved sequencing quality. The new unified workflow can accommodate a variety of input DNA sample types, including cell-free, FFPE, as well as low and high quality genomic DNA.Our dual-indexed library construction process offers an option for duplex unique molecular identifiers (UMIs) for applications requiring detection of low allele fraction variants in deep coverage sequencing projects. A more cost-effective library construction option with lower coverage and longer inserts is also available for germline and population genetics focused research projects, to maximize coverage while minimizing sequencing costs.The hybrid selection workflow is compatible with multiple targeted panels of varying sizes, including our redesigned and improved exome panel, which starts with the Twist Human Core Exome design and incorporates ~2 Mb of additional custom content curated from both our germline and somatic users. This customized exome covers ACMG59 genes, and now also targets additional RefSeq and OMIM (Online Mendelian Inheritance in Man) putative gene sequences, COSMIC (Catalogue of Somatic Mutations in Cancer) variants, key promoters and other motifs that have been identified as potential cancer hot spots, and the complete mitochondrial genome. This new exome product shows improved evenness compared to our previous version, enabling libraries to achieve deeper coverage with less sequencing.  The selection workflow, which utilizes IDT’s xGen Hybridization and Wash kit, improves quality while reducing turnaround time. This workflow also provides the flexibility to customers to choose panels from any vendor, such as IDT and Twist Bioscience. In addition to enabling large scale research projects, our exome and a subset of targeted panels will be available for clinical sequencing in our CLIA-licensed, CAP-accredited facility.  


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