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

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 cur...

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Veröffentlicht in:	PloS one 2020-04, Vol.15 (4), p.e0231728-e0231728
Hauptverfasser:	Rao, Aditya, Joseph, Thomas, Saipradeep, Vangala G, Kotte, Sujatha, Sivadasan, Naveen, Srinivasan, Rajgopal
Format:	Artikel
Sprache:	eng
Schlagworte:	Algorithms Annotations Biology and Life Sciences Computer and Information Sciences Dictionaries Disease Engineering and Technology Genes Genotype & phenotype Performance evaluation Phenotypes Physical Sciences Rare diseases Research and Analysis Methods
Online-Zugang:	Volltext
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