Name
Workshop - Rare disease: helping to accelerate diagnoses & clinical impact
Date & Time
Thursday, May 15, 2025, 10:50 AM - 11:30 AM
Isabelle Thiffault Nina Gonzaludo
Description

Unlocking diagnosis and discovery: the HiFi long-read sequencing advantages

1. Recognize the roadblocks that limit rare disease research, diagnoses and care. 2. Explore the possible power of HiFi long-read sequencing as a first line clinical test at Children’s Mercy: a year of data 3. Identify who is most likely to benefit from advanced testing when compared to current standard of testing

Location Name
Beacon / Faneuil (Lobby Level)
Full Address
Boston Marriott Long Wharf
296 State Street
Boston, MA 02109
United States
Session Type
Workshop