Saturday, April 12 | 3:15–4:15 p.m.
Heidi Rehm, Ph.D., Massachusetts General Hospital & Broad Institute of MIT and Harvard
Despite major technological advances in genomic sequencing and data analysis, the majority of individuals with a suspected genetic disorder do not receive a molecular diagnosis. So where is the gap and how do we address it? This talk will present strategies to identify novel causes of rare disease including the application of new technologies and analysis methods as well as building innovative approaches to global data sharing.
Ahmad Abou Tayoun, Ph.D., Dubai Health
This presentation will discuss how new applications, such as rapid whole genome sequencing, and new technologies, such as long-read whole genome sequencing, are enhancing the diagnostic yield of current standard-of-care testing, which is mainly based on short-read exome sequencing. The speaker will present data and cases from their experience using the new applications/technologies in Dubai.
The program includes sessions, networking opportunities, industry spotlights and more.
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