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GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases
BACKGROUND: GenIO is a novel web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. The tool identifies the most probable variants causing a rare disease, using the genomic and clinical information provided by a medical pr...
Autores principales: | Koile, Daniel, Cordoba, Marta, de Sousa Serro, Maximiliano, Kauffman, Marcelo Andres, Yankilevich, Patricio |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2018
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5787240/ https://www.ncbi.nlm.nih.gov/pubmed/29374474 http://dx.doi.org/10.1186/s12859-018-2027-3 |
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