A follow up interview to our most streamed episode of 2023 to explore how AI can be used as a tool to prioritize or curate variants from genetic testing.
All tagged undiagnosed diseases
#254 Bardet Biedl Syndrome with The Alms
Episode drop of It Happened To Me with parents of a child with Bardet Biedl Syndrome, a rare disease affecting vision, obesity, extra fingers/toes and other symptoms.
#82 Smith Family Clinic on Whole Genome Sequencing
The power of whole genome sequencing for patients with undiagnosed diseases.