Exome Sequencing as Part of a Multidisciplinary Approach to Diagnosis —Reply

In Reply Dr Doreille and colleagues share our opinion that a genetic disease diagnosis cannot be made on the basis of an exome-sequencing result alone but requires consideration of all of a patient ’s clinical features and consistency with the spectrum of clinical manifestations that occur in the disease being considered.
Source: JAMA - Category: General Medicine Source Type: research