A doctor has some tried and true methods of helping her diagnose a disease: examining the lymph nodes, taking your temperature, that whole “turn your head and cough” thing. Now, we need to add one more: whole genome sequencing. Researchers at Yale have sequenced the genome of a patient in order to diagnose his condition, reportedly for the first time. Richard Lifton and his team examined the protein encoding portion of an infant’s DNA to determine whether or not he had Bartter’s syndrome (he didn’t). Though still too expensive to use in everyday clinical work, Lifton has shown that whole genome analysis is an effective and relatively quick method to diagnose some diseases. We’re going to be seeing a lot more of this.

via Yale Scientists Diagnose Illness Through Genome Sequencing | Singularity Hub.