Recent deep facial phenotyping methods can support the recognition of genetic syndromes, but patient images are often scarce and unevenly distributed across disorders. Synthetic facial images offer a way to supplement the training data without collecting additional patient photographs. Their usefulness, however, depend...
Miles Liao, Zhanliang Wang, Hong-Zhuo Chen et al.· 0 citations
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
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
We use cookies to run the site and, with your consent, for analytics and to show ads.
See our Cookie Policy.
