PRIORI-T: A tool for rare disease gene prioritization using MEDLINE.

Abstract excerpt

INTRODUCTION: Phenotype-driven rare disease gene prioritization relies on high quality curated resources containing disease, gene and phenotype annotations. However, the effectiveness of gene prioritization tools is constrained by the incomplete coverage of rare disease, phenotype and gene annotations in such curated resources. METHODS: We extracted rare disease correlation pairs involving diseases, phenotypes...

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