Hugging Face Trending Papers
Aug 11

Multi-Level Evidence Aggregation for Robust Facial Phenotype Retrieval in Rare Genetic Disorder Prioritization

AI-assisted facial phenotyping supports rare genetic disorder prioritization by retrieving visually similar diagnosed cases from facial image reference databases such as the GestaltMatcher Database (GMDB). Existing GestaltMatcher-based retrieval frameworks compare each test image with individual gallery images in a facial phenotype embedding space.

arXiv Machine Learning
Jul 7

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

arXiv:2312. 15320v3 Announce Type: replace-cross Abstract: Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests, and genetic tests over a prolonged period of time, a process commonly described as the diagnostic odyssey.

By Da Wu, Zhanliang Wang, Hongzhuo Chen, Jingye Yang, Cong Liu, Tzung-Chien Hsieh, Elaine Marchi, Justin Blair, Peter Krawitz, Chunhua Weng, Wendy Chung, Gholson J. Lyon, Ian D. Krantz, Jennifer M. Kalish, Kai Wang
arXiv Computer Vision
Oct 8

FaceKit: a Toolkit for Interpretable Facial Phenotyping, Synthetic Image Generation and Privacy Analysis in Rare Diseases

arXiv:2610.09288v1 Announce Type: cross Abstract: Many rare genetic diseases are associated with recognizable craniofacial features. However, traditional approaches for describing facial morphology r...

By Hongzhuo Chen, Zhanliang Wang, Florent Pollet, Mian Umair Ahsan, Joshua Bie, Tzung-Chien Hsieh, Peter Krawitz, Cong Liu, Wendy K Chung, Chunhua Weng, Gamze G\"ursoy, Kai Wang