Sanofi
MACHINE LEARNING SYSTEMS AND METHODS TO DIAGNOSE RARE DISEASES

Abstract:

A machine-learned model to diagnose patients with a rare disease based on medical data/records, and methods of training such a model are disclosed. A computer implemented method is disclosed for generating a training dataset for training a machine-learning model to identify individuals with a rare disease. the method comprises: generating, from medical literature associated with the rare disease and using natural language processing, an embedding vector for each of a plurality of terms associated with the rare disease; receiving an initial dataset comprising medical data relating to a plurality of individuals with the rare disease; combining the initial dataset with a control dataset comprising a plurality of individuals without the rare disease; and generating, for each individual in the combined dataset, an embedding vector representing the individual based on features associated with the individual and the embedding vectors for the plurality of terms associated with the rare disease.