Domain-wide Mapping of Peer-reviewed Literature for Genetic Developmental Disorders using Machine Learning and Gene2Phenotype
T. Michael Yates, Sarah E Hunt, Diana Lemos, Seeta Ramaraju Pericherla, Elena Cibrián–Uhalte, Morad Ansari, Louise Thompson, Simona Emilova Doneva, Caroline Fiona Wright, Helen V. Firth, 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.
medRxiv · Nov 24, 2025 · PreprintGenetic & Genomic Medicine