Exome Sequencing and Clinical Diagnosis JM Friedman et al, JAMA, July 31, 2020

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 Whole Genome Sequencing

Exome Sequencing and Clinical Diagnosis
JM Friedman et al, JAMA, July 31, 2020

Neither exome nor genome sequencing is a diagnostic test. Diagnosis must be performed by a physician who can assess genetic variants in the context of all of a patient's clinical features and their consistency with the full spectrum of clinical manifestations that occur in the disease being considered.