Exomiser in action

Genetics in Medicine article

Together with

• William Bone and William Gahl and others from Undiagnosed Diseases Program,
• the Monarch team and
• colleagues from the Centre for Computational Medicine Hospital for Sick Children in Toronto

we published a new article in Genetics in Medicine. We show that structured phenotyping of patients and computational analysis are effective adjuncts for diagnosing patients with genetic disorders.