Clinical Evaluation of an AI System for Streamlined Variant Interpretation in Genetic Testing

J Ruzicka, JM Ravel, J Audoux, A Boulat, J Thévenon… - medRxiv, 2025 - medrxiv.org
Background The growing use of whole exome/genome sequencing for diagnosing
hereditary diseases has increased the interpretive workload for clinical laboratories. Efficient …

Subsumption, Vectorization, Heat Maps, and Word Clouds Support the Visualization of Orphadata Neurology Phenotypes

DB Hier, R Yelugam, MD Carrithers, DC Wunsch III - medRxiv, 2022 - medrxiv.org
Disease phenotypes are characterized by signs (what a physician observes during the
examination of a patient) and symptoms (the complaints of a patient to a physician). Large …