Exhibit Theater Schedules

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Exhibit Theater Schedules

Exhibit Theater 1

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, PacBioEd 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 

 

 

 

Exhibit Theater 2

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

 


 

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