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Artículo

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

Koile, Daniel IsaacIcon ; Córdoba, MartaIcon ; de Sousa Serro, Maximiliano GuillermoIcon ; Kauffman, Marcelo AndresIcon ; Yankilevich, PatricioIcon
Fecha de publicación: 01/2018
Editorial: BioMed Central
Revista: BMC Bioinformatics
ISSN: 1471-2105
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:
Ciencias de la Computación

Resumen

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, classified and filtered by clinical significance. Candidate genes associated with the patient's symptoms, suspected disease and complementary findings are identified to obtain a small manageable number of the most probable recessive and dominant candidate gene variants associated with the rare disease case. Additionally, following the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG-AMP) guidelines and recommendations, all potentially pathogenic variants that might be contributing to disease and secondary findings are identified. Results: A retrospective study was performed on 40 patients with a diagnostic rate of 40%. All the known genes that were previously considered as disease causing were correctly identified in the final inherit model output lists. In previously undiagnosed cases, we had no additional yield. Conclusion: This unique, intuitive and user-friendly tool to assists medical doctors in the clinical genomics diagnostic process is openly available at https://bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO/.
Palabras clave: BIOINFORMATICS , CLINICAL INFORMATICS , EXOME SEQUENCING , GENOME SEQUENCING , RARE DISEASE , VARIANT ANALYSIS
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/91268
URL: https://bmcbioinformatics.biomedcentral.com/articles/10.1186/s12859-018-2027-3
DOI: http://dx.doi.org/10.1186/s12859-018-2027-3
Colecciones
Articulos(IBCN)
Articulos de INST.DE BIOLO.CEL.Y NEURCS."PROF.E.DE ROBERTIS"
Articulos(IBIOBA - MPSP)
Articulos de INST. D/INV.EN BIOMED.DE BS AS-CONICET-INST. PARTNER SOCIEDAD MAX PLANCK
Citación
Koile, Daniel Isaac; Córdoba, Marta; de Sousa Serro, Maximiliano Guillermo; Kauffman, Marcelo Andres; Yankilevich, Patricio; GenIO: A phenotype-genotype analysis web server for clinical genomics of rare diseases; BioMed Central; BMC Bioinformatics; 19; 1; 1-2018
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