BioinformaticsbioRxivPreprint
PSEA: A phenotypic similarity ensemble approach for prioritizes candidate genes to aid mendelian disease diagnosis
Zhonghua Wang, Lipei Liu, Chao Chen…·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.
DOI 10.1101/2021.10.13.464308