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.
Customer Spotlight: Katherine Lafferty at Broad Clinical Labs
We recently sat down to talk with Katherine Lafferty, MS, CGC about how Alamut™ Visual Plus helps her overcome the