GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

arXiv:2312.15320v2 Announce Type: replace-cross
Abstract: Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests and genetic tests, to find a possible answer over a prolonged period of time. Addressing this "diagnostic odyssey" thus has substantial clinical, psychosocial, and economic benefits. Many rare genetic diseases have distinctive facial features, which can be used by artificial intelligence algorithms to facilitate clinical diagnosis, in prioritizing candidate diseases to be further examined by lab tests or genetic assays, …

abstract arxiv clinical cs.cv cs.lg cs.mm diagnosis diagnostic disease disease diagnosis images imaging laboratory machine machine learning multimodal multiple q-bio.gn q-bio.qm studies tests through type