Phenolyzer: phenotype-based prioritization of candidate genes for human diseases

作者：Yang Hui; Robinson Peter N; Wang Kai^*

来源：Nature Methods, 2015, 12(9): 841-+.

DOI：10.1038/NMETH.3484

Prior biological knowledge and phenotype information may help to identify disease genes from human whole-genome and whole-exome sequencing studies. We developed Phenolyzer (http://phenolyzer.usc.edu), a tool that uses prior information to implicate genes involved in diseases. Phenolyzer exhibits superior performance over competing methods for prioritizing Mendelian and complex disease genes, based on disease or phenotype terms entered as free text.

• 出版日期2015-9
• 单位河北医科大学