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