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

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

Cambridge

Conferencia; Genomics of Rare Disease; 2019

Clinical implementation of whole genome sequencing or whole exome sequencing as a single and primary test will provide a higher diagnostic yield than conventional testing while decreasing the number of genetic tests and ultimately the time before reaching a genetic diagnosis. Genetic risk communication will rapidly broaden in scope and practice as emerging genomic technologies allow more medical doctors to access information of their patients? genetic makeup.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.