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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Public Library of Science
2020
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| Materias: | |
| 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 |