Phen2Gene: Rapid Phenotype-Driven Gene Prioritization for Rare Diseases
Mengge Zhao, James M. Havrilla, Fang Li, Ying Chen, Jacqueline J Peng, Cong Liu, Chao Wu, Mahdi Sarmady, Pablo Botas, Julián Isla, Gholson J. Lyon, Chunhua Weng, Kai Wang
Phen2Gene prioritizes genes based on HPO terms for rare diseases, outperforming existing tools in speed and accuracy for clinical diagnosis.
NAR Genomics and Bioinformatics · May 25, 2020Peer-reviewedBioinformatics