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


ABSTRACT: 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.

SUBMITTER: Yang H 

PROVIDER: S-EPMC4718403 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature

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

Yang Hui H   Robinson Peter N PN   Wang Kai K  

Nature methods 20150720 9


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. ...[more]

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