Phenolyzer：基于表型对人类疾病候选基因进行优先级排序。
Phenolyzer: phenotype-based prioritization of candidate genes for human diseases.
作者信息
Yang Hui, Robinson Peter N, Wang Kai
机构信息
Zilkha Neurogenetic Institute, University of Southern California, Los Angeles, California, USA.
Neuroscience Graduate Program, University of Southern California, Los Angeles, California, USA.
出版信息
Nat Methods. 2015 Sep;12(9):841-3. doi: 10.1038/nmeth.3484. Epub 2015 Jul 20.
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.
摘要
先前的生物学知识和表型信息可能有助于从人类全基因组和全外显子组测序研究中识别疾病基因。我们开发了Phenolyzer（http://phenolyzer.usc.edu），这是一种利用先前信息来推断与疾病相关基因的工具。基于以自由文本形式输入的疾病或表型术语，Phenolyzer在对孟德尔疾病基因和复杂疾病基因进行优先级排序方面，表现优于其他竞争方法。
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