New report offers a primer for doctors’ use of clinical genome and exome sequencing

Sooner than almost anyone expected, a new, genome-based technology for demystifying undiagnosed illnesses — particularly rare childhood diseases — is moving from research laboratories into general medical practice. Now, two leading scientists have sketched out what doctors need to know in order to use the new technology effectively.

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This page was last updated on Friday, January 21, 2022