Bryn Webb, MD

Jadin Heilmann

Undiagnosed Disease Program Case Review

• Examine the use of whole genome sequencing and optical genome mapping to identify novel variants that were not identified by whole exome sequencing.
• Define how new technologies can improve our understanding of the pathobiology of genetic disorders and the relationships between genomic variation and disease.
• State the importance of in-depth phenotyping for rare diseases.
• Identify a variety of tools and resources that can help diagnose patients.