Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
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- Record sourced from PubMed, PMID 26192085.
- Also identified by DOI 10.1038/nmeth.3484 and PMC identifier 4718403.
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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.
Medical subject headings
- Algorithms
- Chromosome Mapping
- Databases, Genetic
- Genetic Diseases, Inborn
- Genetic Predisposition to Disease
- Genome, Human