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

DANIEL KOILE; MARCELO KAUFFMAN; MARTA CORDOBA; PATRICIO YANKILEVICH; MAXIMILIANO G DE SOUSA SERRO

BMC BIOINFORMATICS

BIOMED CENTRAL LTD

Lugar: Londres; Año: 2018

1471-2105

GenIO is a web-server, designed to assist clinical genomics researchers and medical doctors in the diagnostic process of rare genetic diseases. GenIO identifies the most probable variants causing a rare disease, using the genomic and clinical information provided by a medical practitioner. Starting from thousands of variants identified in a whole-genome, whole-exome or target sequencing study, GenIO annotates them with known clinical information to be classified and filtered by clinical significance. The system then identifies candidate genes associated with the patient?s symptoms, suspected disease and complementary findings, entered as controlled vocabulary terms in the Human Phenotype Ontology (HPO) project and the Online Mendelian Inheritance in Man (OMIM) database, in order to obtain only a small manageable number of the most probable recessive and dominant candidate gene variants associated with the rare disease case. Additionally, GenIO identifies all potentially pathogenic variants and secondary findings that might be contributing to disease by following the American College of Medical Genetics and Genomics and the Association of Molecular Pathology (ACMG-AMP) guidelines and recommendations. GenIO can be accessed at https://bioinformatics.ibioba-mpsp-conicet.gov.ar/GenIO/