Journal
NATURE METHODS
Volume 12, Issue 9, Pages 841-+Publisher
NATURE PUBLISHING GROUP
DOI: 10.1038/NMETH.3484
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Funding
- US National Institutes of Health [R01-HG006465]
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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.
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