PSEA: A phenotypic similarity ensemble approach for prioritizes candidate genes to aid mendelian disease diagnosis
Zhonghua Wang, Lipei Liu, Chao Chen, Xi Liu, Fei Tang, Yixiang Zhang, Yunmei Chen, Yaoshen Wang, Jun Sun, Zhiyu Peng
PSEA prioritizes candidate genes for mendelian disease diagnosis by improving phenotypic similarity evaluation using HPO terms and showing better performance than existing methods.
bioRxiv · Oct 13, 2021 · PreprintBioinformatics