CoLab
Wednesday, October 21
Pangenome-Informed, AI-Driven Variant Calling Using Google DeepVariant on DNBSEQ-T7+ and CoolMPS 600 Sequencers
Andrew Carroll
Product Lead, Genomics, Google AI
Accurate and scalable genomic variant calling is foundational to precision medicine and population-scale genomics. Pangenomes, which incorporate haplotype sequences from many individuals alongside the reference genome, can help resolve difficult-to-map regions and improve variant-calling accuracy.
Dr. Carroll will present a pangenome-informed approach that combines pangenome mapping with DeepVariant models trained on Complete Genomics DNBSEQ-T7+ and CoolMPS 600 sequencing data. Using the comprehensive T2T v5 GIAB truth set, DNBSEQ sequencers achieved fewer than 50,000 errors, representing a greater than 50% increase in accuracy compared with linear-reference pipelines. These improvements are driven by the combination of improved pangenome mapping and strong DNBSEQ performance in homopolymers and tandem repeats.
He will also examine the signals in Complete Genomics sequencing reads that contribute to this improvement and demonstrate how the open-source pipelines can be deployed in a fast and scalable manner.
Industry Workshop
Thursday, October 22
Advancing Precision Genomics: From Cancer Detection to Complete WGS and Longitudinal Multi-Omics
This Industry Education Session brings together three perspectives on how advances in DNBSEQ technology, liquid biopsy, clinical WGS, Complete WGS, transcriptomics, and longitudinal multi-omics are expanding the possibilities of precision genomics and personalized medicine.
Genomic and Liquid Biopsy Strategies for Understanding and Detecting Cancer
Christopher Douville
Assistant Professor of Oncology, Johns Hopkins School of Medicine
In the era of precision medicine, new tools are needed to translate our growing knowledge of the cancer genome and epigenome into better ways to study and manage disease. Dr. Douville will describe next-generation sequencing approaches that interrogate copy number alterations, rare somatic mutations, immune cell repertoires, and DNA fragmentation patterns across a range of applications and biofluids. His presentation will highlight three studies demonstrating how high-quality sequencing supports cancer research and clinical investigation.
- Analysis of DNA in cerebrospinal fluid (CSF) to help inform the management of patients with radiographically detectable brain lesions or symptoms consistent with brain tumors.
- Detection and classification of multiple cancer types in blood at high specificity.
- Characterization of genetic changes occurring during the early stages of pancreatic neoplasia.
Clinical Validation of DNBSEQ-T7+ for Comprehensive Whole-Genome Sequencing
Alexander Kaplun
VP of Product, Variantyx
Dr. Kaplun will share Variantyx’s clinical validation and implementation of DNBSEQ-T7+ for comprehensive whole-genome sequencing. Building on more than 35,000 clinical tests sequenced using DNBSEQ-T7, Variantyx now sequences more than 80% of its clinical samples on DNBSEQ-T7+. He will present validation results across SNVs, indels, structural and mitochondrial variants, mobile element insertions, and short tandem repeats. He will also discuss how high-accuracy, lower-cost DNBSEQ-T7+ sequencing enables routine 40–45X coverage, helping reduce resequencing and streamline interpretation.
Longitudinal Multi-Omics to Enable Personalized Medicine With DNBSEQ
Michael Snyder
Professor, Stanford University
The integrative Personal Omics Profiling (iPOP) study tracked an individual’s molecular landscape across 42 timepoints over 14 years. Combining DNBSEQ™-based completeWGS (cWGS) and cLFR transcriptomics with proteomics, we identified molecular signatures associated with infection, metabolic dysregulation, and inflammation. High-coverage genome sequencing improved variant phasing and supported interpretation of genotype–phenotype relationships. These findings demonstrate how a stable genomic baseline, combined with dynamic gene expression and protein profiles, can inform individualized health monitoring and advance precision medicine.
Booth Presentations*
Wednesday, October 21
Accelerating Genomics Analysis with NVIDIA Parabricks
Gary Burnett
Technical Marketing Engineer, NVIDIA
Talk to Your Genome
Ronjon Nag
Co-Founder, Superbio.ai
Thursday, October 22
Revealing the Full Spectrum of Genomics with CoolMPS 600: Longer Read Lengths, Greater Possibilities
Radoje Drmanac
Chief Scientific Officer, Complete Genomics
Fewer than 30k Total Error Achieved by DNAscope Pangenome and CoolMPS SE600 Reads
Haodong Chen
Senior Application Scientist, Sentieon
Friday, October 23
The Human Genome – Ready to Read
Tomohiro Takano
CEO, Genomelink
Enhancing Single-Cell Transcriptomics Sensitivity With DNSBEQ-T1+ and Bio-Rad ddSEQ 3′ RNA-Seq Kit
Angelica Olcott
Market Development Manager, Bio-Rad Laboratories
*Posters accompanying these presentations will be available at Booth 807 throughout the conference.
Fun Booth Activities
Wed, Oct 21- Fri, Oct 23
Adopt a Puppy* After Completing a Survey at Our Booth!
*till supplies lasts
Thursday, October 22
Snack & SNPs: Afternoon PowerUP
Stop by for a chat and power up with a cheese-and-fruit plate!