Author

Chun-Hua Weng

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Preprint Oct 2026

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

Many rare genetic diseases are associated with recognizable craniofacial features. However, traditional approaches for describing facial morphology rely largely on qualitative clinical observation and free-text descriptions, which are often subjective, non-standardized, and difficult to reproduce across observers and i...

Hong-Zhuo Chen, Zhanliang Wang, Florent Pollet et al. · 0 citations

Review Open access Jul 2026

RankVar: machine learning-based variant ranking and reinterpretation for rare genetic diseases.

A machine learning algorithm called RankVar is developed to prioritize causative variants for rare diseases, based on clinical notes and genome/exome sequencing profiles, and may provide a useful framework for prioritizing variants in monogenic or oligogenic diseases.

Yuan Zhang, Mian Umair Ahsan, Peng Wang et al. · Genome Medicine · 1 citation