Introduction DNA forms the informational basis of Terran life through its ability to store, transmit, and evolve genetic information. Two features let it do so: […]
Category: Sequencing
Sequencing validates deep learning models for EHR-based detection of Noonan syndrome in pediatric patients
Introduction Noonan syndrome (NS) is an autosomal dominant disorder characterized by dysregulation of the RAS/MAPK pathway, affecting approximately 1 in 1000 to 2500 live births1. […]