10:00-10:30am EST
Keynote
Mike Might, PhD, Professor, Internal Medicine and Computer Science; Hugh Kaul Endowed Chair, Personalized Medicine; Director, Hugh Kaul Precision Medicine Institute
10:35-11:00am EST
Precision 20
TBD
11:05-11:55am EST
Panel Discussion
Moderator: Christina Waters, PhD, MBA, Chief Executive Officer and Founder, RARE Science
12:00-12:25am EST
Strategies for Improving the Diagnostic Yield of WGS/WES in Rare Disease
Jeanette McCarthy, MPH, PhD, Senior Director, Scientific Programs, Fabric Genomics
Next-gen sequencing provides diagnoses for thousands of children with rare disease every year, but approximately 60% of cases remain unsolved. In this presentation, we’ll discuss strategies for improving the diagnostic yield, including expanded reporting, incorporation of CNV analysis and routine reanalysis.
12:30-1:15pm EST
Panel Discussion
TBD
1:20-2:05pm EST
Panel Discussion
TBD
2:10-2:55pm EST
Panel Discussion
TBD