Genetic & Genomic MedicinemedRxivPreprint
Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype
T. Michael Yates, Sarah E Hunt, Diana Lemos…·T. Ian Simpson
The paper develops an automated pipeline to map genetic developmental disorder literature to Gene2Phenotype using NLP models, achieving high accuracy and scalability for biocuration.