GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases

GenIO: a phenotype-genotype analysis web server for clinical genomics of rare diseases

Abstract 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 me...

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Bibliographic Details
Main Authors: Daniel Koile, Marta Cordoba, Maximiliano de Sousa Serro, Marcelo Andres Kauffman, Patricio Yankilevich
Format: Article
Language:English
Published: BMC 2018-01-01
Series:BMC Bioinformatics
Subjects:
Rare disease
Exome sequencing
Genome sequencing
Clinical informatics
Variant analysis
Bioinformatics
Online Access:http://link.springer.com/article/10.1186/s12859-018-2027-3

Internet

http://link.springer.com/article/10.1186/s12859-018-2027-3

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