An article published in Nature Methods describes the development of Phenolyzer – a tool that uses prior information to implicate genes involved in diseases. According the authors no tool is able to utilise existing disease nomenclature systems to interpret the user input as free text, which the Phenolyzer is able to produce, exhibiting superior performance over competing methods for prioritising Mendelian and complex disease genes.
The authors first tested Phenolyzer on a small dataset of 14 very well-established Mendelian diseases that are each known to be caused by mutations in only one or two genes and found that Phenolyzer successfully prioritised all disease causal genes as “top1”. Furthermore they evaluated to 590 known inherited disease genes clearly demonstrating that Phenolyzer is adept at finding genes that are known to be associated with Mendelian diseases. The study also demonstrated that Phenolyzer is able to adeptly prioritise candidate genes for complex diseases as well as novel disease genes compared to similar tools.