Article

Semantic Disease Gene Embeddings (SmuDGE): phenotype-based disease gene prioritization without phenotypes

2018-04-30

Abstract excerpt

<h4>Motivation</h4> In the past years, several methods have been developed to incorporate information about phenotypes into computational disease gene prioritization methods. These methods commonly compute the similarity between a disease’s (or patient’s) phenotypes and a database of gene-to-phenotype associations to find the phenotypically most similar match. A key limitation of these methods is their reliance o...

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Literature Corpus work: ac78d2cc-16d0-55ed-8b15-99bdf64aac77
DOI: 10.1101/311449

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