Discover how our 9-step sample-to-report workflow found the pathogenic variant associated with a neurological disorder from complex, exome-sized data, in a single experiment. The SOPHiA DDM™️ Platform complemented by Alamut™ Visual Plus is utilized to interpret the large amount of genomic data obtained with the SOPHiA DDM™ Clinical Exome Solution v3 (CES v3) from a 7-year-old girl with intellectual disability and developmental delay.
ESGO Poster spotlight
Watch our poster spotlight interview, hosting Dr.Gardenia Vargas from Hospital del Mar in Barcelona, Spain discussing the poster presentation at