Meet Us at ASHG 2024
Denver, Colorado
DATES: November 5-9, Booth #414
Join our expert team at ASHG and discover the latest AI-driven end-to-end clinical sequencing solutions that are scaling genetic testing for our partners.
Best of both worlds: monogenic and polygenic analysis built on the backbone of clinical genetic disease testing
In this session, speakers from organizations at the forefront of combined monogenic and polygenic research will present their work leveraging emerging knowledge and their vision for providing genomic medicine care at population scale. They will share updates on developing tools, establishing large cohorts with high diversity, and putting a “rare and common” paradigm into clinical practice.
Speakers: Francisco M. De La Vega, PhD; Galatea Bio; Chief Technology Officer “Exploring the Genetic Architecture of Familial Hypercholesterolemia in a Mexican Cohort Using AI-Driven Genomics” Niall J. Lennon, PhD; Broad Clinical Labs; CSO and Chair “A new clinical assay at Broad Clinical Labs for cost-effective population screening and combined monogenic/polygenic disease risk assessment” Robert Green, MD MPH; Harvard Medical School; Professor of Medicine (Genetics)
“Nurture Genomics: A Platform for AI-driven Newborn and Childhood Genomic Screening”
Moderator: Samuel Strom, PhD, FACMG; Fabric Genomics; VP Clinical Operations and Clinical Genomics
A limited number of lunches will be provided, so grab your seat early!
Enabling Decentralized Ultra-Rapid Whole Genome Sequencing with Long-Reads and Fabric GEM AI
Most newborns who could benefit from Ultra-Rapid WGS (defined here as 72 hours from sample to answer) do not have access to this revolutionary testing. This is in large part due to the lack of ubiquitous testing apparatus and the challenges of genomic interpretation at scale. In this session, experts in this field will explore the benefits of combining minimal footprint instrumentation and high-quality sequencing developed by Oxford Nanopore Technologies with the AI interpretation GEM algorithm developed by Fabric Genomics.
Stephen Meyn, MD, PhD; University of Wisconsin-Madison
WISC: Piloting the 48-hour sequencing workflow for BadgerSeq: a decentralized model for ultra-rapid long-read diagnostic genome sequencing
Thursday 11/07, 2:30-4:30pm Board 2058T
Humberto Nicolini, MD, PhD; Caracci Medical Group
Galatea Bio: Mendelian variation in a Mexican early onset psychosis cohort analyzed using an AI interpretation algorithm
Friday 11/08, 2:30-4:30pm Board 3067F
Mark Yandell, PhD; University of Utah Intermountain: PCH Gene Kids: Comprehensive WGS-based healthcare for the Intermountain West
Friday 11/08, 2:30-4:30pm Board 7033F
Christopher Pombar; Magee-Women’s Research Institute
Magee Womens Research Institute: Functional assessment of PASD1 gene variants in male infertility
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