Diagno an online Clinical Genomics Diagnosis tool

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

Simposio; Frontiers in Bioscience 2; 2016

Clinical implementation of whole genome sequencing or whole exome sequencing as a single and primary test willprovide 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.Diagno is a clinical genomics diagnosis online tool to help medical doctors to diagnose based on the patient?s genetic profile and complementary information, identifying the most probable autosomal recessive and dominant variants associated with rare Mendelian and complex disease. URL: http://bioinformatics.ibioba-mpsp-conicet.gov.ar/Diagno/