Bone2Gene: Next-generation Phenotyping of Rare Bone Diseases
Eike Bolmer, Philipp Schmidt, Isabel Fischer, Sebastian Rassmann, Adele Ruder, Alexander Hustinx, Aron Kirchhoff, Christoph Beger, Kyra Skaf, Minu Fardipour, Tzung‐Chien Hsieh, Alexandra Keller, Alberto De Rosa, Silvia Kalantari, Fabio Sirchia, , Behnam Javanmardi
Bone2Gene uses deep learning to classify rare bone diseases from hand radiographs, achieving high accuracy for distinct disorders but lower for overlapping ones.
medRxiv · Mar 27, 2026 · PreprintGenetic & Genomic Medicine