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

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 annotatio...

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Detalles Bibliográficos
Autores principales: Rao, Aditya, Joseph, Thomas, Saipradeep, Vangala G., Kotte, Sujatha, Sivadasan, Naveen, Srinivasan, Rajgopal
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173875/
https://www.ncbi.nlm.nih.gov/pubmed/32315351
http://dx.doi.org/10.1371/journal.pone.0231728

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7173875/
https://www.ncbi.nlm.nih.gov/pubmed/32315351
http://dx.doi.org/10.1371/journal.pone.0231728

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