Dr. Mike Snyder, PhD, Chair, Department of Genetics & Director, Center for Genomics and Personalized Medicine

Join our CoLab to hear about our novel human NGS/MPS-based WGS product, CompleteWGS—a combination of the highest-quality real PCR-free WGS and DNA co-barcoding-based single tube Long Fragment Read (stLFR) WGS. By enabling reporting of all inherited variants (separated from somatic mutations) phased in chromosome arm-size contigs, almost no false positive errors, improved mapping and variant calling in difficult regions (e.g., dark genes), and structural variant calling with local de novo assembly was achieved. This CoLab will discuss how a blood sample from Michael Snyder was deployed, resulting in a near perfect false positive and false negative calling rates of > 0.995, phased contig N50 sizes of > 50 Mb, and the successful calling of 100s of SVs. Importantly, these genomes were sequenced on a DNBSEQ sequencing platform, offering no clonal error, no index hopping, and reduced duplicated rate at a routinely lowest cost—opening up new frontiers in how research and clinical scale human genome sequencing should be done in the future.

Dr. Rade Drmanac, PhD, Chief Scientific Officer, Complete Genomics

Leveraging the elimination of clonal errors through DNB-based sequencing technology and the high signal density of patterned nanoarray chips, DNBSEQ brings WGS to broader clinical use by further reducing costs and turnaround time, while improving sequencing performance. This talk will highlight how to accomplish completely PCR-free WGS—in which the whole process is not only PCR-free during library preparation, but also PCR-free during sequencing—via the DNBSEQ platform.

Dr. Peter L. Nagy, MD, PhD, Founder and Chief Medical Officer, Praxis Genomics

Hear how Praxis Genomics has introduced a new testing paradigm into the clinical evaluation of both constitutional and somatic disorders. Instead of targeted and stepwise evaluation of samples, whole genome sequencing and optical genome mapping were performed to identify both small and structural variants and transcriptome sequencing was to evaluate the functional consequences of the variants identified. Relying on Complete Genomics’ DNBSEQ-T7 sequencing platform, this test achieved a price that is similar to the currently available testing options. All testing was validated and performed with the same sensitivity and specificity across the board as other currently available state-of-the-art instruments.

Dr. Elaine Lim, PhD, Assistant Professor, Department of Genomics and Computational Biology, UMass Chan Medical School

We’ll highlight a study on the transcriptomic effects of herpes viruses, such as herpes simplex virus 1 (HSV-1), in contributing to Alzheimer’s disease using human cerebral organoids. Findings from single-cell spatial RNA sequencing using Stereo-seq performed on infected were compared to uninfected 3D cerebral organoids, as well as single-cell non-spatial RNA sequencing performed on dissociated cells from infected and uninfected cerebral organoids (2D organoids). Despite the lower infection rates in 3D organoids versus 2D organoids, interesting cell type tropism in the 3D infected organoids versus 2D infected organoids were observed. The results illustrate some advantages of using a sequencing-based spatial transcriptomics technology for novel discoveries and data integration of multi-transcriptomics datasets.

Please join us for an evening of fun!

Friday, November 3 | 7:30PM
Dirty Habit D.C.
555 8th Street NW
Washington, DC 20004

RSVP Here!