Thursday, March 16
10:45 AM - 11:15 AM Achieving Economic Success as an NGS Labs: Strategy and Implementation Speaker: Andreas Scherer, PhD, Golden Helix Presented by Golden Helix
11:20 AM - 11:50 AM Quality of Life in Women with Fabry Disease Speaker: Sarah King, MBA, MS, CGC Presented by Sanofi
11:55 AM - 12:25 PM PacBio: A New Standard in Repeat Expansion Detection and Resolution of SMN1/2 with Long and Accurate HiFi Reads Speaker: Mike Eberle, PacBio; Ed Lee, PacBio Presented by: PacBio
12:30 PM - 1:00 PM Optical Genome Mapping: a New Standard of Performance in Prenatal and Postnatal Genetic Analysis Speakers: Brynn Levy, MSc, PhD, Columbia University; Roger Stevenson, MD, Greenwood Genetic Center; Nikhil Sahajpal, PhD, Greenwood Genetic Center Presented by: Bionano

 

 

 

Thursday, March 16
10:45 AM - 11:15 AM Highly Multiplexed, Universal Probe Droplet Digital PCR Application for Non-Invasive Prenatal Testing (NIPT) Speakers: Scott Hauenstein, PhD, Bio-Rad Laboratories; Ron Wapner, MD, Columbia University Irving Medical Center Presented by Bio-Rad Laboratories
11:20 AM - 11:50 AM Looking Under the Hood of Clinical Genomics: A Nuts and Bolts Comparison of WGS, WES, and Curated Gene Panels Speaker: Eric Bend, PhD, FACMG, PreventionGenetics Presented by: PreventionGenetics
11:55 AM - 12:25 PM User Cases: Advancing Rare Disease Research with the SOPHiA DDM™ Platform Speakers: Sevana Yaghoubian, MSc, SOPHiA GENETICS; Simon Alfred, PhD, SOPHiA GENETICS Presented by: SOPHiA GENETICS
12:30 PM - 1:00 PM Streamline Hereditary Disorder Research with OGT’s myPanel CytoSure® NGS Customization Tool Speaker: Andrea Langella, MS, OGT Presented by: OGT

 

Friday, March 17
10:45 AM - 11:15 AM Variant Interpretation at Scale: Unlocking the Full Potential of Newborn Sequencing Speaker: Mark Kiel, MD, PhD, GENOMENON Presented by: GENOMENON
11:20 AM - 11:50 AM Illumina Complete Long Reads – Rare Disease Insights from Complex Genomes Speaker: Andrew Shaver, Illumina Presented by: Illumina
11:55 AM - 12:25 PM Unlocking Greater Access to Your Genome Through Enhanced Saliva Collection Speakers: Avi Robbins, MS, MBA, Porex Life Sciences Institute; Vinuta Mayakonda, MBID, Porex Life Sciences Institute Presented by: Porex Life Sciences Institute
12:30 PM - 1:00 PM Utility of RNA-Seq in Inherited Disease Diagnostics: Gene-Targeted versus Whole Transcriptome Analyses Speaker: S. Hussain Askree, MBBS, PhD, FACMG, MNG Laboratories Presented by: LabCorp

 

Friday, March 17
10:45 AM - 11:15 AM A Treatment for Adults with PKU: A Discussion of Immunogenicity, Safety, Dosing and Efficacy Speaker: Barbara Burton, MD, Ann and Robert H. Lurie Children's Hospital of Chicago Presented by: BioMarin Pharmaceutical
11:20 AM - 11:50 AM Introduction to Rare Genetics Diseases of Obesity Speaker: Jessica Duis, MD, Children's Hospital of Colorado Presented by: Rhythm Pharmaceuticals
11:55 AM - 12:25 PM Analysis of 90,000 Prenatal Specimens: Delineation of CNVs, Homozygosity and Complexity by SNP Microarray Analysis Speaker: Stuart Schwartz, PhD, FACMG. LabCorp  Presented by: ThermoFisher
12:30 PM - 1:00 PM Science Can’t Wait: New Options for Affordable, High-quality Exome and Panel Sequencing at Moderate Sample Throughput Speaker: Shawn Levy, PhD,  Element Biosciences Presented by: Element Biosciences