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...

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Detalles Bibliográficos
Autores principales: Koile, Daniel, Cordoba, Marta, de Sousa Serro, Maximiliano, Kauffman, Marcelo Andres, Yankilevich, Patricio
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Software
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

Internet

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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