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Article

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

BMC bioinformatics - 27 Jan 2018

Koile Daniel, Cordoba Marta, de Sousa Serro Maximiliano, Kauffman Marcelo Andres, Yankilevich Patricio

Abstract excerpt

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 practitioner. Variants identified in a whole-genome, whole-exome or target sequencing studies are annotated,...

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Identifiers

PMID: 29374474
DOI: 10.1186/s12859-018-2027-3
PMCID: PMC5787240

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