aiDIVA – hybrid AI for rare disease diagnostics using evidence-based, machine learning and language models
aiDIVA is presented, an ensemble-AI combining statistical and machine learning models trained on genomic and phenotypic data to identify causal variants among tens of thousands per patient, and applies a random forest model to classify pathogenicity and generates evidence-based scores for dominant and recessive disease...
D. Boceck, L. Laugwitz, M. Sturm et al.
· npj Genomic Medicine · 1 citation