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Background We are in an unprecedented era where the genome of an individual can be sequenced in a day for low cost in a single sequencing run. The availability this information is changing and challenging the practice of medicine. At The Medical College of Wisconsin (MCW) we have been running a whole genome sequencing (WGS) based genetics clinic for over a year. WGS together with the processes and tools developed for analysis and interpretation are being used to identify disease-causing mutations in rare pediatric disorders in children being treated at our affiliated Children’s Hospital of Wisconsin.

Clinical diagnostic whole genome sequencing in a paediatric population: experience from our WGS genetics clinic