Article

Phrank measures phenotype sets similarity to greatly improve Mendelian diagnostic disease prioritization

2018-04-02

Abstract excerpt

<h4>Purpose</h4> Exome sequencing and diagnosis is beginning to spread across the medical establishment. The most time-consuming part of genome based diagnosis is the manual step of matching the potentially long list of patient candidate genes to patient phenotypes to identify the causative disease. <h4>Methods</h4> We introduce Phrank (for phenotype ranking), an information-theory inspired method that utilizes...

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Literature Corpus work: fe2ef9b8-ba98-5b71-bd86-142235edeecd
DOI: 10.1101/225854

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