Genetic & Genomic MedicinemedRxivPreprint
PhenoScore: AI-based phenomics to quantify rare disease and genetic variation
Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen…·Bert B A De Vries
PhenoScore quantifies phenotypic similarity using AI and HPO data to improve genetic variant interpretation and genotype-phenotype studies.
6 citations