Super-Speedy Sequencing Puts Genomic Diagnosis in the Fast Lane

February 19, 2024

An array of vials from blood tests.

(Nature) – Stark and others around the world have repeatedly demonstrated the feasibility and clinical benefit of rapid sequencing and interpretation pipelines for delivering timely, personalized interventions for previously enigmatic disorders. These workflows can generally deliver diagnoses in less than a week, but the record for a genome-sequencing-derived diagnosis, held by genomics researcher Euan Ashley at Stanford University in California and his colleagues, is just over seven hours. (Read More)