Article
Evaluation of phenotype-driven gene prioritization methods for Mendelian diseases.
Briefings in bioinformatics - 10 Mar 2022
Yuan Xiao, Wang Jing, Dai Bing, Sun Yanfang, Zhang Keke, Chen Fangfang, Peng Qian, Huang Yixuan, Zhang Xinlei, Chen Junru, Xu Xilin, Chuan Jun, Mu Wenbo, Li Huiyuan, Fang Ping, Gong Qiang, Zhang Peng
Abstract excerpt
It's challenging work to identify disease-causing genes from the next-generation sequencing (NGS) data of patients with Mendelian disorders. To improve this situation, researchers have developed many phenotype-driven gene prioritization methods using a patient's genotype and phenotype information, or phenotype information only as input to rank the candidate's pathogenic genes. Evaluations of these ranking methods...
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